NDE1-related microhydranencephaly
Findings
No curated finding names NDE1-related microhydranencephaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae.
Definition from the Mondo Disease Ontology (MONDO:0011504), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Agenesis of corpus callosumHPOHP:0001274
- 2 of 2 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 2 of 2 reported patients
- Cutis gyrata of scalpHPOHP:0010541
- 2 of 2 reported patients
- Generalized amyotrophyHPOHP:0003700
- 2 of 2 reported patients
- Growth delayHPOHP:0001510
- 2 of 2 reported patients
- HyperreflexiaHPOHP:0001347
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NDE1HGNC:17619
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
Other names
1 name
Resolves to: NDE1-related microhydranencephaly
- Also called
- MHAC