neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures
MONDO:0859282Mondo
Findings
No curated finding names neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
25 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
- 6 of 6 reported patients
- Delayed gross motor developmentHPOHP:0002194
- 6 of 6 reported patients
- Epileptic encephalopathyHPOHP:0200134
- 6 of 6 reported patients
- HyperreflexiaHPOHP:0001347
- 5 of 5 reported patients
- HypertoniaHPOHP:0001276
- 6 of 6 reported patients
- MicrocephalyHPOHP:0000252
- 6 of 6 reported patients
- Severe global developmental delayHPOHP:0011344
- 6 of 6 reported patients
- Inability to walkHPOHP:0002540
- 5 of 6 reported patients
- Short statureHPOHP:0004322
- 4 of 6 reported patients
- Aggressive behaviorHPOHP:0000718
- 3 of 6 reported patients
- NystagmusHPOHP:0000639
- 3 of 6 reported patients
- ScoliosisHPOHP:0002650
- 3 of 6 reported patients
Show the remaining 13
- CNS hypomyelinationHPOHP:0003429
- 2 of 5 reported patients
- DyskinesiaHPOHP:0100660
- 2 of 6 reported patients
- Thin corpus callosumHPOHP:0033725
- 1 of 5 reported patients
- Autistic behaviorHPOHP:0000729
- 1 of 6 reported patients
- Cerebral visual impairmentHPOHP:0100704
- 1 of 6 reported patients
- ChoreoathetosisHPOHP:0001266
- 1 of 6 reported patients
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.
- CHKAHGNC:1937
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Moderate · G2P · Autosomal recessive · 2022
- Limited · Ambry Genetics · Autosomal recessive · 2022