Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies

Preferred Label : Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies;

Symbol : IDDHISD;

Type : Phenotype, molecular basis known;

Prefixed ID : #619556;

Details

Origin ID

619556;

UMLS CUI

C5561997;

Currated CISMeF NLP mapping
- Intellectual Developmental Disorder with Hypotonia, Impaired Speech, and Dysmorphic Facies [NCIt concept]
- intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies [DO Concept]
DO Cross reference
- intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies [DO Concept]
Genes related to phenotype
- Transportin 2 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Astigmatism [HPO term]
- Ataxia [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Coarse facial features [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed speech and language development [HPO term]
- Everted lower lip vermilion [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Hypermetropia [HPO term]
- Hypertonia [HPO term]
- Hypotonia [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Large fleshy ears [HPO term]
- Long philtrum [HPO term]
- Microcephaly [HPO term]
- Myopathic facies [HPO term]
- Myopia [HPO term]
- Narrow forehead [HPO term]
- Prominent nasal bridge [HPO term]
- Retrognathia [HPO term]
- Seizure [HPO term]
- Short philtrum [HPO term]
- Strabismus [HPO term]
- Tremor [HPO term]
- Ventriculomegaly [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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