Intellectual developmental disorder with short stature and behavioral abnormalities

Preferred Label : Intellectual developmental disorder with short stature and behavioral abnormalities;

Symbol : IDDSSBA;

CISMeF acronym : IDDSSBA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the IQ motif- and SEC7 domain-containing protein 1 gene (IQSEC1, 610166.0001);

Prefixed ID : #618687;

Details

Origin ID

618687;

UMLS CUI

C5231462;

Automatic exact mappings (from CISMeF team)
- IQSEC1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- intellectual developmental disorder with short stature and behavioral abnormalities [DO Concept]
DO Cross reference
- intellectual developmental disorder with short stature and behavioral abnormalities [DO Concept]
Genes related to phenotype
- Iq motif- and sec7 domain-containing protein 1 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Aggressive behavior [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal recessive inheritance [HPO term]
- Delayed ability to walk [HPO term]
- Gait ataxia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability, severe [HPO term]
- Microcephaly [HPO term]
- Motor delay [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Status epilepticus [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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