Microcephaly, postnatal progressive, with seizures and brain atrophy

Preferred Label : Microcephaly, postnatal progressive, with seizures and brain atrophy;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mediator complex subunit 17 gene (MED17, 603810.0001);

Prefixed ID : #613668;

Details

Origin ID

613668;

UMLS CUI

C3150921;

Automatic exact mappings (from CISMeF team)
- Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly [ORDO Disease]
- infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly [DO Concept]
DO Cross reference
- infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly [DO Concept]
Genes related to phenotype
- Mediator complex subunit 17 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Clonus [HPO term]
- Diffuse cerebral atrophy [HPO term]
- Dysphagia [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypsarrhythmia [HPO term]
- Progressive [HPO term]
- Progressive microcephaly [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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