Microcephaly, seizures, and developmental delay

Preferred Label : Microcephaly, seizures, and developmental delay;

Symbol : MCSZ;

CISMeF acronym : EIEE10; MCSZ;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EIEE10; Epileptic encephalopathy, early infantile, 10; Developmental and epileptic encephalopathy 10; DEE10;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the polynucleotide kinase 3-prime phosphatase gene (PNKP, 605610.0001);

Laboratory abnormalities : Patient cells show defective DNA repair in response to irradiation and free radical damage;

Prefixed ID : #613402;

Details

Origin ID

613402;

UMLS CUI

C3150667;

Currated CISMeF NLP mapping
- Microcephaly-seizures-developmental delay syndrome [ORDO Disease]
- microcephaly, seizures and developmental delay [Disease (Nov.)]
- microcephaly, seizures, and developmental delay [DO Concept]
DO Cross reference
- microcephaly, seizures, and developmental delay [DO Concept]
Genes related to phenotype
- Polynucleotide kinase 3-prime phosphatase [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Global developmental delay [HPO term]
- Hyperactivity [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, severe [HPO term]
- Microcephaly [HPO term]
- Motor delay [HPO term]
- Progressive microcephaly [HPO term]
- Seizure [HPO term]
- Simplified gyral pattern [HPO term]
- Skeletal muscle atrophy [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Early infantile epileptic encephalopathy [ORDO Disease]
- Microcephaly-seizures-developmental delay syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microcephaly-seizures-developmental delay syndrome [ORDO Disease]
- microcephaly, seizures and developmental delay [Disease (Nov.)]
- microcephaly, seizures, and developmental delay [DO Concept]

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