Lissencephaly 4 with microcephaly

Preferred Label : Lissencephaly 4 with microcephaly;

Symbol : LIS4;

CISMeF acronym : LIS4;

Type : Phenotype, molecular basis known;

Description : Lissencephaly-4 is an autosomal recessive neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly (head circumference of more than 10 standard deviations (SD) below the mean), and profound mental retardation. It has also been referred to as 'microlissencephaly' (summary by Bakircioglu et al., 2011 and Alkuraya et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the A. nidulans Nude 1 gene (NDE1, 609449.0001);

Prefixed ID : #614019;

Details

Origin ID

614019;

UMLS CUI

C3151461;

Automatic exact mappings (from CISMeF team)
- Microlissencephaly [ORDO Disease]
DO Cross reference
- lissencephaly [DO Concept]
Genes related to phenotype
- Nude neurodevelopment protein 1 [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Congenital onset [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hypertonia [HPO term]
- Intellectual disability, profound [HPO term]
- Lissencephaly [HPO term]
- Microcephaly [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Simplified gyral pattern [HPO term]
ORDO concept(s)
- Microlissencephaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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