neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
Findings
No curated finding names neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum.
Definition from the Mondo Disease Ontology (MONDO:0060490), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Progressive
HPO, annotations 2026-09-02
Features
42 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.
- Absent speechHPOHP:0001344
- 15 of 15 reported patients
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- 15 of 15 reported patients
- Inability to walkHPOHP:0002540
- 15 of 15 reported patients
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- 15 of 15 reported patients
- Frequent (30% to 79% of cases)
- Profound global developmental delayHPOHP:0012736
- 15 of 15 reported patients
Genes
2 genes
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.
- DOCK4HGNC:19192
- Strong · PanelApp Australia · Autosomal dominant · 2025
- PRUNE1HGNC:13420
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2017