| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Intellectual disability Buenos Aires type (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Neurofaciodigitorenal syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| 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. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| 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. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| 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. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| 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. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| X-linked intellectual disability Hedera type (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| 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. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Cortical blindness, intellectual disability, polydactyly syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| 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. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| 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. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Spastic paraplegia with precocious puberty syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Epilepsy, microcephaly, skeletal dysplasia syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Epilepsy telangiectasia syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Dysmorphism, short stature, deafness, disorder of sex development syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Marfanoid habitus with autosomal recessive intellectual disability syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| Pseudoprogeria syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| Preaxial polydactyly, colobomata, intellectual disability syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Van den Bosch syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Aniridia, renal agenesis, psychomotor retardation syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| C syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Skeletal dysplasia with epilepsy and short stature syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| McDonough syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| MORM syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| GMS syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Harrod syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Goldblatt Wallis syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Microcephaly with deafness and intellectual disability syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| An extremely rare genetic syndromic intellectual disability described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| A rare syndromic intellectual disability characterised by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalised osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Female restricted epilepsy with intellectual disability syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| FRAXE intellectual disability syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| L1 syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Trisomy 10p (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterised by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localised to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| 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. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
| Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Megalocornea with intellectual disability syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| SCARF syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Temtamy preaxial brachydactyly syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Severe intellectual disability and progressive spastic paraplegia |
Has interpretation |
False |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Atypical hypotonia cystinuria syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Synaptic Ras GTPase activating protein 1- related intellectual disability (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Severe intellectual disability, progressive spastic diplegia syndrome (disorder) |
Has interpretation |
False |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| A rare genetic neurometabolic disorder with characteristics of severe progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomegaly, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the ASNS gene on chromosome 7q21. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| A rare fatal inborn error of metabolism disorder with characteristics of respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Hereditary cryohydrocytosis with reduced stomatin |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Richieri Costa-da Silva syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia and cleft palate. The syndrome is associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Macrocephaly, intellectual disability, autism syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Congenital muscular dystrophy with intellectual disability (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| A rare syndromic intellectual disability with characteristics of global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioural issues, stereotypic behaviour, febrile seizures and epilepsy, abnormal gait, vision defects and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| X-linked intellectual disability due to GRIA3 mutations |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Muscle eye brain disease with bilateral multicystic leukodystrophy |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
| Hyperekplexia epilepsy syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| 21q22.11q22.12 microdeletion syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Intellectual disability, hyperkinetic movement, truncal ataxia syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| A rare genetic syndromic intellectual disability disorder with characteristics of variable degrees of intellectual disability, behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness) an altered sleeping pattern and delayed speech and language development associated with disruption of ankyrin 3 (ANK3 gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger and dysmorphic facial features have been reported. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| 14q32 deletion syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Mowat-Wilson syndrome due to monosomy 2q22 (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| X-linked complicated corpus callosum dysgenesis |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Contracture with ectodermal dysplasia and orofacial cleft syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
| déficience intellectuelle liée à l'X type Brooks |
Has interpretation |
False |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| X-linked intellectual disability hypotonic face syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Angelman syndrome due to maternal monosomy 15q11q13 (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Tall stature, intellectual disability, renal anomalies syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
| Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| RERE-related neurodevelopmental syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Early-onset epilepsy, intellectual disability, brain anomalies syndrome |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare X-linked syndromic intellectual disability characterized by intellectual disability of variable degree, behavioral anomalies (including autism, mood disorders, obsessive-compulsive behavior, and hetero- and auto-aggression), and epilepsy. Progressive neurological symptoms like movement disorders and spasticity, as well as subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males. |
Has interpretation |
True |
Impaired (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
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