| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| A rare genetic odontologic disease with characteristics of the congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic odontologic disease with characteristics of the congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic developmental defect during embryogenesis. A syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
| Kongenit spinalt hydromeningocele |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| Kongenit spinalt hydromeningocele |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
| Kongenit spinalt hydromeningocele |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
4 |
| A rare genetic syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolemia and hypertension has also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolemia and hypertension has also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare genetic syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolemia and hypertension has also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
| Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| Kranielt hydromeningocele |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
| Congenital abnormality of cardiac ventricle |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital spade-like hand |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital bowing of femur |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Rhinocephaly |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Rhinocephaly |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of mild to severe global development delay, severe intellectual disability, mild hypotonia, a short ulna, hirsutism of the face and extremities, minimal scoliosis, and facial dysmorphism, notably a tall broad forehead, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low-set, small ears, long philtrum, thin upper lip and everted lower lip vermilion. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of mild to severe global development delay, severe intellectual disability, mild hypotonia, a short ulna, hirsutism of the face and extremities, minimal scoliosis, and facial dysmorphism, notably a tall broad forehead, synophrys, hypertelorism, malar hypoplasia, broad nose with thick alae nasi, low-set, small ears, long philtrum, thin upper lip and everted lower lip vermilion. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| 13q12.3 microdeletion syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| 13q12.3 microdeletion syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| 13q12.3 microdeletion syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare syndromic intellectual disability syndrome with characteristics of cortical blindness, different types of seizures, intellectual disability with limited or absent speech and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region. There is evidence the disease is caused by compound heterozygous mutation in the DOCK7 gene on chromosome 1p31. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare syndromic intellectual disability syndrome with characteristics of cortical blindness, different types of seizures, intellectual disability with limited or absent speech and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region. There is evidence the disease is caused by compound heterozygous mutation in the DOCK7 gene on chromosome 1p31. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare syndromic intellectual disability syndrome with characteristics of cortical blindness, different types of seizures, intellectual disability with limited or absent speech and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region. There is evidence the disease is caused by compound heterozygous mutation in the DOCK7 gene on chromosome 1p31. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare genetic syndromic intellectual disability with characteristics of mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare developmental defect during embryogenesis disorder with characteristics of macroblepharon, ectropion, and facial dysmorphism, which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, and increased density of upper eyelashes, anteverted nares, abnormal dentition and capillary haemangioma. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare developmental defect during embryogenesis disorder with characteristics of macroblepharon, ectropion, and facial dysmorphism, which includes severe hypertelorism, downslanting palpebral fissures, posteriorly rotated ears, broad nasal bridge, long and smooth philtrum, and macrostomia with thin upper lip vermilion border. Other features may include large fontanelles, prominent metopic ridge, thick eyebrows, mild synophrys, and increased density of upper eyelashes, anteverted nares, abnormal dentition and capillary haemangioma. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare hereditary cerebral malformation with epilepsy syndrome with characteristics of severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare hereditary cerebral malformation with epilepsy syndrome with characteristics of severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare hereditary cerebral malformation with epilepsy syndrome with characteristics of severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic syndromic intellectual disability disorder with characteristics of global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus) and corpus callosum dysplasia may be associated. The disease is caused by homozygous mutation in the THOC6 gene on chromosome 16p13. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic syndromic intellectual disability disorder with characteristics of global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus) and corpus callosum dysplasia may be associated. The disease is caused by homozygous mutation in the THOC6 gene on chromosome 16p13. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare hereditary basal epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions and bleeding, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age. There is evidence the disease can be caused by homozygous mutation in the EXPH5 gene on chromosome 11q22. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare hereditary basal epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side, and are often several centimeters big. There is evidence the disease is caused by homozygous mutation in the DST (BPAG1) gene on chromosome 6p12. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic syndromic intellectual disability disorder characterised by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioural anomalies (for example autistic behaviour, sleeping disturbances), urogenital abnormalities (for example cryptorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects. There is evidence the disease is caused by heterozygous mutation in the CTCF gene on chromosome 16q22. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic syndromic intellectual disability disorder characterised by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioural anomalies (for example autistic behaviour, sleeping disturbances), urogenital abnormalities (for example cryptorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects. There is evidence the disease is caused by heterozygous mutation in the CTCF gene on chromosome 16q22. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic syndromic intellectual disability disorder with characteristics of global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia) and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth. Caused by heterozygous mutation in the GATAD2B gene on chromosome 1q21. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Hypoplastic left heart syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
| Spondylocostal dysostosis, hypospadias, intellectual disability syndrome |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| Turner's tooth |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Ocular albinism with congenital sensorineural deafness |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
| Ocular albinism with congenital sensorineural deafness |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
2 |
| Ocular albinism with congenital sensorineural deafness |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic syndromic intellectual disability syndrome with characteristics of mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or ocular defects, may be observed. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic intestinal disease characterised by early-onset chronic non-infectious, non-bloody, watery diarrhoea associated with protein-losing enteropathy, which results in hypoalbuminaemia, hypogammaglobulinaemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhoea, failure to thrive, recurrent infections and oedema. There is evidence the disease is caused by homozygous mutation in the DGAT1 gene. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic disease with characteristics of symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic disease with characteristics of symmetrical muscular hypertrophy, hepatomegaly, polyhydramnios, macrocephaly and mild delay in motor, speech and language development. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Incomplete ossification of skull (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Incomplete ossification of ischium |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Incomplete ossification of vertebra (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital hypoplasia of eye bulge |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Streak ovary (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Incomplete ossification of pubis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Microglossia |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (including thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (including thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (including thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Congenital hypoplasia of ovary |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital junctional epidermolysis bullosa-pyloric atresia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| Congenital junctional epidermolysis bullosa-pyloric atresia syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13. |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
3 |
| A rare genetic bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| A rare genetic bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. There is evidence the disease can be caused by homozygous mutation in the CYP26B1 gene on chromosome 2p13. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Occipital encephalocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
5 |
| A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
4 |
| A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare developmental defect during embryogenesis syndrome with characteristics of hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare developmental defect during embryogenesis syndrome with characteristics of hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare developmental defect during embryogenesis syndrome with characteristics of hypertelorism, bilateral preauricular sinus, bilateral punctal pits, lacrimal duct obstruction, hearing loss, abnormal palmar flexion creases and bilateral distal axial triradii. Shawl scrotum has also been reported. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| A rare hereditary syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases and distinctive facial features in males. Females are clinically asymptomatic or mildly affected presenting mild learning difficulties and facial dysmorphism. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare potentially fatal genetic visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the RFX6 gene on chromosome 6q22. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare potentially fatal genetic visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the RFX6 gene on chromosome 6q22. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare potentially fatal genetic visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the RFX6 gene on chromosome 6q22. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
| Maffucci syndrome |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Meningoencephalocele |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Ulegyria |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Congenital tracheo-oesophageal cleft |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Congenital tracheo-oesophageal cleft |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Origin of innominate artery from left side of aortic arch |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Left ventricular-right atrial communication |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Intramedullary glomus arteriovenous malformation of spinal cord (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Intramedullary glomus arteriovenous malformation of spinal cord (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Intramedullary and extramedullary arteriovenous malformation of spinal cord (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Intramedullary and extramedullary arteriovenous malformation of spinal cord (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| Stenosis of systemic to pulmonary artery collateral artery (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Otomandibular dysostosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta (disorder) |
Occurrence |
False |
Congenital |
Inferred relationship |
Some |
1 |
| Central complete cleft palate |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Hypermobile Ehlers-Danlos syndrome (disorder) |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| Lunate-triquetrum synostosis |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
1 |
| A rare genetic dysostosis disorder with characteristics of brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
2 |
| A rare genetic dysostosis disorder with characteristics of brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984. |
Occurrence |
True |
Congenital |
Inferred relationship |
Some |
3 |
FHIR