Microcephaly 17, primary, autosomal recessive

Preferred Label : Microcephaly 17, primary, autosomal recessive;

Symbol : MCPH17;

CISMeF acronym : MCPH17;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the citron RHO-interacting serine/threonine kinase gene (CIT, 605629.0001);

Prefixed ID : #617090;

Details

Origin ID

617090;

UMLS CUI

C4310723;

Automatic exact mappings (from CISMeF team)
- CIT wt Allele [NCIt concept]
- primary autosomal recessive microcephaly 17 [DO Concept]
DO Cross reference
- primary autosomal recessive microcephaly 17 [DO Concept]
Genes related to phenotype
- Citron rho-interacting serine/threonine kinase [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bulbous nose [HPO term]
- Cerebellar hypoplasia [HPO term]
- Congenital onset [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Intellectual disability [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Microlissencephaly [HPO term]
- Renal agenesis [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Simplified gyral pattern [HPO term]
- Sloping forehead [HPO term]
- Spasticity [HPO term]
- Thick vermilion border [HPO term]
- Variable expressivity [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Autosomal recessive primary microcephaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Autosomal recessive primary microcephaly [ORDO Disease]

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