Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
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) |
|
Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoscoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare syndromic intellectual disability characterised by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnoea. There have been no further descriptions in the literature since 1987. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Intellectual disability, short stature, hypertelorism syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare genetic syndrome with characteristics of severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. There is evidence this disease is caused by homozygous mutation in the TUBA8 gene on chromosome 22q11. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Pseudoleprechaunism syndrome Patterson type (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare disorder of branched-chain amino acid metabolism with characteristics of childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. Caused by homozygous mutation in the BCKDK gene on chromosome 16p11. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Jawad syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Developmental and speech delay due to SOX5 deficiency |
Is a |
False |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autism spectrum disorder due to AUTS2 deficiency |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
15q overgrowth syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
RAB18 deficiency |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
White Sutton syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Disease with characteristics of seizures that are resistant to treatment and begin in infancy. Development is impaired most children have severe intellectual disability and little or no speech. Common features include stereotypies, bruxism, disrupted sleep, feeding difficulties and gastrointestinal problems. Some individuals have distinctive facial features including a high and broad forehead, large and deep-set eyes, a well-defined philtrum, high palate. Microcephaly, scoliosis and tapered fingers have also been reported. Caused by mutations in the CDKL5 gene, which disrupts brain development. Inherited in an X-linked dominant pattern. The CDKL5 gene is located on the X chromosome however almost all cases of this condition result from de novo mutations in the CDKL5 gene. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare hereditary syndromic intellectual disability with characteristics of craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Spondyloepimetaphyseal dysplasia Genevieve type (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Zechi Ceide syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare genetic X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features. Caused by hemizygous mutation in the NSDHL gene on chromosome Xq28. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare congenital disorder of glycosylation with characteristics of moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophrys and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, and short femoral necks with coxa valga, clinodactyly and broad thumbs. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Intellectual disability, facial dysmorphism, hand anomalies syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Roifman syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Intellectual disability with strabismus syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
9q31.1q31.3 microdeletion syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare chromosomal anomaly with characteristics of moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip) and reduced sensitivity to pain. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
14q24.1q24.3 microdeletion syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
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. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Schwere früh-beginnende Adipositas mit Insulin-Resistenz-Syndrom durch SH2B1-Mangel |
Is a |
False |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Distal Xq28 microduplication syndrome (disorder) |
Is a |
False |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare hereditary neurologic disease with characteristics of early-onset cognitive impairment as a sole disability. The disease may be associated with autism, epilepsy and neuromuscular deficits. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cutis laxa mit schweren Lungen-, Magen-, Darm- und Harnwegs-Anomalien |
Is a |
False |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Ataxia, photosensitivity, short stature syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Deafness with onychodystrophy syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Piebald trait with neurologic defects syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Intellectual disability, severe speech delay, mild dysmorphism syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Temtamy preaxial brachydactyly syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) |
Is a |
False |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Atypical hypotonia cystinuria syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Synaptic Ras GTPase activating protein 1- related intellectual disability (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hereditary cryohydrocytosis with reduced stomatin |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
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. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
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. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Richieri Costa-da Silva syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder) |
Is a |
False |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
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. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Macrocephaly, intellectual disability, autism syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital muscular dystrophy with intellectual disability (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability due to GRIA3 mutations |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
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. |
Is a |
False |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Muscle eye brain disease with bilateral multicystic leukodystrophy |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hyperekplexia epilepsy syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
21q22.11q22.12 microdeletion syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
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. |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Fatal X-linked ataxia with deafness and loss of vision (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cross syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hennekam lymphangiectasia-lymphoedema syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Gillespie syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Seckel syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Fragile X syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Angelman syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Lowe syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Alopecia, epilepsy, intellectual disability syndrome Moynahan type |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Blepharophimosis, intellectual disability syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Woodhouse Sakati syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Myhre syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
14q32 deletion syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability hypotonic face syndrome |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Tetrasomy 12p syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
N syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome (disorder) |
Is a |
True |
Intelligenzminderung |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|