| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Bullous dystrophy macular type |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Intellectual disability Buenos Aires type (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Neurofaciodigitorenal syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| déficience intellectuelle liée à l'X type Brooks |
Is a |
False |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A disorder that is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Caudal appendage-deafness syndrome is characterised by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterised by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalised bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| X-linked intellectual disability Hedera type (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterised by intellectual disability (with severe speech impairment), a myxoedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder) |
Is a |
False |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cortical blindness, intellectual disability, polydactyly syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare congenital limb malformation characterised the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further reports since 1994. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Spastic paraplegia with precocious puberty syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Epilepsy, microcephaly, skeletal dysplasia syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Epilepsy telangiectasia syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Dysmorphism, short stature, deafness, disorder of sex development syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Marfanoid habitus with autosomal recessive intellectual disability syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Pseudoprogeria syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Preaxial polydactyly, colobomata, intellectual disability syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microcephalus, digital anomaly, intellectual disability syndrome |
Is a |
False |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Van den Bosch syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Aniridia, renal agenesis, psychomotor retardation syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Megalocornea with intellectual disability syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| SCARF syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Grubben, De Cock, Borghgraef syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Facial dysmorphism, cleft palate, loose skin syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Craniofaciofrontodigital syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cerebrofacioarticular syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterised by severe generalised lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Family history of intellectual disability |
Associated finding |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Wiedemann Steiner syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Intellectual disability screening |
Has focus |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Intellectual disability due to nutritional deficiency (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Craniodigital syndrome and intellectual disability syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Intellectual disability, alacrima, achalasia syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Intellectual disability, polydactyly, uncombable hair syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Intellectual disability, spasticity, ectrodactyly syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and psychomotor delay, Robin sequence (including severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophrys, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Intellectual disability Wolff type |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| X-linked intellectual disability with ataxia and apraxia syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Macrocephaly and developmental delay syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Malan overgrowth syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Agenesis of corpus callosum and abnormal genitalia syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Oro-facial digital syndrome type 14 (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Intellectual disability Birk-Barel type |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Cryptorchidism, arachnodactyly, intellectual disability syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Intellectual disability, myopathy, short stature, endocrine defect syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A neurological disorder with characteristics of moderate to severe developmental delay and intellectual disability and mild dysmorphic features. Early symptoms include hypotonia, delayed development of motor skills, speech delay, hypertelorism, broad nasal bridge, and fingers with tapered ends. Other features include microcephaly, seizures, recurrent ear infections, strabismus, amblyopia and hyperopia. Behavioral problems such as hyperactivity, attention deficit disorder, aggression, anxiety and autism spectrum occur in some cases. Caused by mutations in the HIVEP2 gene leading to a shortage of functional HIVEP2 protein. Inherited in an autosomal dominant pattern however most cases of this condition result from de novo mutations in the gene. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microcephalic primordial dwarfism Montreal type |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Nijmegen breakage syndrome-like disorder |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionally, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the butterfly sign is characteristically observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Purine rich element binding protein A syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microcephalic primordial dwarfism Alazami type |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microcephalic primordial dwarfism Dauber type |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| X-linked cerebral, cerebellar, coloboma syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| 5p13 microduplication syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| A rare, genetic, neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy). |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Optic atrophy, intellectual disability syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| 2p13.2 microdeletion syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| 11p15.4 microduplication syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| 3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterised by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behaviour patterns are highly variable and range from sociable and affectionate to autistic behaviour. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
| Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
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