| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare syndromic intellectual disability characterised by hypotonia, developmental delay, absent or severely delayed speech development, obstructive sleep apnoea, mild dysmorphic facial features and behavioural abnormalities. Epilepsy, ataxia and nystagmus have also been reported. Caused by heterozygous mutation in the AHDC1 gene on chromosome 1p36. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic lethal neurometabolic malformation syndrome with characteristics of multiple variable congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanelle, fused metopic suture, upslanted palpebral fissures, over folded helix, depressed nasal bridge, anteverted nose, malar flattening, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed. Caused by mutation in the PIGA gene on chromosome Xp22. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic lethal neurometabolic malformation syndrome with characteristics of multiple variable congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanelle, fused metopic suture, upslanted palpebral fissures, over folded helix, depressed nasal bridge, anteverted nose, malar flattening, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed. Caused by mutation in the PIGA gene on chromosome Xp22. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic syndromic intellectual disability disorder with characteristics of mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism and crowding of teeth. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic syndromic intellectual disability disorder with characteristics of mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism and crowding of teeth. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic syndromic intellectual disability disorder with characteristics of mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism and crowding of teeth. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a FLBN1 gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a FLBN1 gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic hematologic disorder characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities and microcephaly. Mild facial dysmorphism and hypotonia have also been reported. There is evidence the disease is caused by homozygous mutation in the ERCC6L2 gene on chromosome 9q22. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic pigmentation anomaly of the skin syndrome with characteristics of ventral as well as dorsal leukoderma of the trunk and a congenital white forelock in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, unilateral or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Peripheral dysostosis |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic glycogen storage disorder with characteristics of polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive usually dilated cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and auto-inflammation presenting with recurrent bacterial infections have also been reported. Caused by homozygous or compound heterozygous mutation in the RBCK1 gene on chromosome 20p13. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare genetic neural tube defect malformation syndrome with characteristics of sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, and single umbilical artery and in some cases increased nuchal translucency. There is evidence the disease can be caused by homozygous mutation in the T gene on chromosome 6q27. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic neural tube defect malformation syndrome with characteristics of sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, and single umbilical artery and in some cases increased nuchal translucency. There is evidence the disease can be caused by homozygous mutation in the T gene on chromosome 6q27. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic neural tube defect malformation syndrome with characteristics of sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, and single umbilical artery and in some cases increased nuchal translucency. There is evidence the disease can be caused by homozygous mutation in the T gene on chromosome 6q27. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare genetic neural tube defect malformation syndrome with characteristics of sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, and single umbilical artery and in some cases increased nuchal translucency. There is evidence the disease can be caused by homozygous mutation in the T gene on chromosome 6q27. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| A rare systemic disease characterised by a neonatal progeroid appearance (not associated with other manifestations of premature ageing) associated with facial dysmorphism (for example macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalised extreme congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated. There is evidence the disease is caused by heterozygous mutation in the FBN1 gene on chromosome 15q21. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare systemic disease characterised by a neonatal progeroid appearance (not associated with other manifestations of premature ageing) associated with facial dysmorphism (for example macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalised extreme congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated. There is evidence the disease is caused by heterozygous mutation in the FBN1 gene on chromosome 15q21. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare systemic disease characterised by a neonatal progeroid appearance (not associated with other manifestations of premature ageing) associated with facial dysmorphism (for example macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalised extreme congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated. There is evidence the disease is caused by heterozygous mutation in the FBN1 gene on chromosome 15q21. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate and simple, dysplastic pinnae with preauricular pits/tags. Caused by homozygous mutation in the GSC gene on chromosome 14q32. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate and simple, dysplastic pinnae with preauricular pits/tags. Caused by homozygous mutation in the GSC gene on chromosome 14q32. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate and simple, dysplastic pinnae with preauricular pits/tags. Caused by homozygous mutation in the GSC gene on chromosome 14q32. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare genetic cutaneous disorder with characteristics of leukonychia and multiple recurrent pilar cysts associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic cutaneous disorder with characteristics of leukonychia and multiple recurrent pilar cysts associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare skin disease characterized by the association of sebaceous nevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic nevus and variable central nervous system abnormalities including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemisphere enlargement. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare skin disease characterized by the association of sebaceous nevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic nevus and variable central nervous system abnormalities including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemisphere enlargement. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare skin disease characterized by the association of sebaceous nevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic nevus and variable central nervous system abnormalities including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemisphere enlargement. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Dandy-Walker syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Dandy-Walker syndrome with spina bifida |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Bilateral congenital retroversion of femurs |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Bilateral congenital retroversion of femurs |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic syndromic intellectual disability disorder with highly variable phenotype. Typical characteristics are mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly and behavioral problems that may include autistic features, hyperactivity and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, short bulbous nose with broad tip, thick vermilion border, wide and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated. Caused by heterozygous mutation in the FOXP1 gene on chromosome 3p13. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic mitochondrial oxidative phosphorylation disorder with characteristics of intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additional features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability. Caused by homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital genu varum of left knee (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Brachydactyly of finger of right hand |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Brachydactyly of finger of left hand (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital overriding toes of bilateral feet (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Congenital overriding toes of bilateral feet (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital overriding toes of bilateral feet (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
5 |
| Congenital overriding toes of bilateral feet (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital overriding toes of bilateral feet (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| Congenital overriding toes of right foot (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital overriding toes of right foot (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
| Congenital overriding toes of right foot (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Brachydactyly of finger of bilateral hands (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Brachydactyly of finger of bilateral hands (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Bilateral congenital pes valgo planus of feet |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Bilateral congenital pes valgo planus of feet |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital genu varum of right knee |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital overriding toes of left foot (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital overriding toes of left foot (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital overriding toes of left foot (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
| Bilateral congenital deformity of feet |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Bilateral congenital deformity of feet |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital anteversion of left femur |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital deformity of left foot (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital deformity of right foot (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital anteversion of right femur |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Bilateral congenital anteversion of femurs |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Bilateral congenital anteversion of femurs |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Oculopharyngeal muscular dystrophy |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Calcaneonavicular bar |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic dysostosis syndrome with characteristics of bilateral symmetrical preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (including misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia. There is evidence the disease is caused by homozygous mutation in the CHSY1 gene on chromosome 15q26. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic dysostosis syndrome with characteristics of bilateral symmetrical preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (including misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia. There is evidence the disease is caused by homozygous mutation in the CHSY1 gene on chromosome 15q26. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| A rare genetic dysostosis syndrome with characteristics of bilateral symmetrical preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (including misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia. There is evidence the disease is caused by homozygous mutation in the CHSY1 gene on chromosome 15q26. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare genetic dysostosis syndrome with characteristics of bilateral symmetrical preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (including misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia. There is evidence the disease is caused by homozygous mutation in the CHSY1 gene on chromosome 15q26. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic subtype of non-syndromic pontocerebellar hypoplasia with characteristics of progressive cerebellum and brainstem atrophy, corpus callosum hypo/aplasia and progressive post-natal microcephaly. Patients typically present profound global developmental delay, spastic tetraparesis, seizures, cortical visual impairment and on neuroimaging abnormal brain morphology that includes pontocerebellar hypoplasia, figure of 8 midbrain appearance and more variably interhemispheric cysts, ventriculomegaly and cerebral dysmyelination. There is evidence the disease is caused by homozygous mutation in the AMPD2 gene on chromosome 1p13. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic subtype of non-syndromic pontocerebellar hypoplasia with characteristics of progressive cerebellum and brainstem atrophy, corpus callosum hypo/aplasia and progressive post-natal microcephaly. Patients typically present profound global developmental delay, spastic tetraparesis, seizures, cortical visual impairment and on neuroimaging abnormal brain morphology that includes pontocerebellar hypoplasia, figure of 8 midbrain appearance and more variably interhemispheric cysts, ventriculomegaly and cerebral dysmyelination. There is evidence the disease is caused by homozygous mutation in the AMPD2 gene on chromosome 1p13. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, with characteristics of hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones. Stippled epiphyses are usually seen in the tarsus, knee, and distal phalanges, but may be more generalised, including epiphyses of the long bones, vertebrae, hips, hyoid and tracheal cartilage. At birth, the diagnosis is apparent with facial dysmorphism, quite similar to that of maxillonasal dysplasia. The causative gene is ARSE (Xp22) encoding the arylsulfatase E protein essential for the correct composition of cartilage and bone matrix during development. The pattern of inheritance is X-linked. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic developmental defect during embryogenesis disorder with characteristics of abnormal forward projection of the mandible beyond the standard relation to the cranial base, with lower incisors often overlapping the upper incisors, that is inherited in an autosomal dominant manner. Association with mildly everted lower eyelids, flat malar area, thickened lower lip and craniosynostosis has been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare midline cerebral malformation disorder with characteristics of duplicated pituitary stalks and/or glands within duplicated sella. Patients may present various degrees of facial dysmorphism and endocrine abnormalities, including precocious puberty, hypogonadism, hypothyroidism and/or hyperprolactinaemia, as well as associated congenital anomalies such as cleft lip/palate, bifid nasal bridge/tongue/uvula, hypothalamic enlargement with or without hamartoma, nasopharyngeal tumours, corpus callosum agenesis/hypoplasia, basilar artery duplication, and/or vertebral defects (in particular duplication of the odontoid process). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic non-syndromic developmental defect during embryogenesis malformation syndrome with characteristics of congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 12. The disorder has characteristics of intellectual disability, global developmental delay with prominent language impairment, behavioural abnormalities and mild facial dysmorphism (including frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia and brain malformations. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 12. The disorder has characteristics of intellectual disability, global developmental delay with prominent language impairment, behavioural abnormalities and mild facial dysmorphism (including frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia and brain malformations. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare chromosomal anomaly with characteristics of prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare chromosomal anomaly with characteristics of prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic lethal primary bone dysplasia with characteristics of dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophthalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis and bent long bones (particularly involving the femora). Caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic lethal primary bone dysplasia with characteristics of dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophthalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis and bent long bones (particularly involving the femora). Caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare skin disorder with characteristics of the co-occurrence of sebaceous naevi with aplasia cutis congenita located directly adjacent or in close proximity and ocular abnormalities including limbal dermoids and coloboma of the conjunctiva. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare skin disorder with characteristics of the co-occurrence of sebaceous naevi with aplasia cutis congenita located directly adjacent or in close proximity and ocular abnormalities including limbal dermoids and coloboma of the conjunctiva. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare skin disorder with characteristics of the co-occurrence of sebaceous naevi with aplasia cutis congenita located directly adjacent or in close proximity and ocular abnormalities including limbal dermoids and coloboma of the conjunctiva. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare complex spastic paraplegia with characteristics of early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory and some develop seizures and stereotypic laughter. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
| A rare complex spastic paraplegia with characteristics of early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory and some develop seizures and stereotypic laughter. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic epidermal disorder with characteristics of congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophilia, nystagmus, growth impairment and cardiac defects. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic disease with characteristics of pre and postnatal growth delay, feeding difficulties, muscular hypotonia, motor developmental delay (with or without mild intellectual disability) and mild facial dysmorphism, such as broad, prominent forehead, short nose with flat nasal root and wide tip, downturned corners of mouth, high-arched palate and micrognathia. Additional features include childhood-onset central obesity, premature puberty and variable bone abnormalities (for example small hands and feet, slender long bones and craniofacial disproportion). |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic complex hereditary spastic paraplegia disorder with characteristics of adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic complex hereditary spastic paraplegia disorder with characteristics of adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic non-syndromic developmental defect of the eye disorder with the association of posterior microphthalmia, retinal dystrophy compatible with retinitis pigmentosa, localised foveal schisis and optic disc drusen. Patients present high hyperopia, usually adult-onset progressive nyctalopia and reduced visual acuity and on occasion acute-angle glaucoma. Caused by homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare pure or complex hereditary spastic paraplegia with characteristics of variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| A rare pure or complex hereditary spastic paraplegia with characteristics of variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
| A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Caused by homozygous or heterozygous mutation in the tenascin-XB gene on chromosome 6p21. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A type of Ehlers-Danlos syndrome characterized by generalized joint hypermobility, skin hyperextensibility and easy bruising without atrophic scarring. Other common features include foot and hand deformities (piezogenic papules, pes planus, broad forefeet, brachydactyly, and acrogenic skin of hands), severe fatigue and neuromuscular symptoms including muscle weakness and myalgia. Caused by homozygous or heterozygous mutation in the tenascin-XB gene on chromosome 6p21. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic systemic autoimmune disease with characteristics of failure to thrive, global developmental delay, distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognathia), hepato and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland. Caused by homozygous mutation in the ITCH gene on chromosome 20q11. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic primary immunodeficiency disorder with characteristics of profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dendritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developing myeloid neoplasms is associated. Caused by heterozygous mutation in the GATA2 gene on chromosome 3q21. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome with characteristics of failure to thrive, severe developmental delay, severe postnatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphism (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro or micrognathia). Additional common features include neurologic abnormalities (hyper/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies. Caused by homozygous mutation in the FTO gene on chromosome 16q12. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare partial autosomal monosomy syndrome with characteristics of neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioural abnormalities (ADHD, Asperger syndrome) have also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare partial autosomal monosomy syndrome with characteristics of neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioural abnormalities (ADHD, Asperger syndrome) have also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare hereditary developmental defect with connective tissue involvement and characteristics of cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare hereditary developmental defect with connective tissue involvement and characteristics of cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
FHIR