neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
MONDO:0100348Mondo
Findings
No curated finding names neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities 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
- Congenital onset · Infantile 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.
- Delayed ability to walkHPOHP:0031936
- 19 of 19 reported patients
- Global developmental delayHPOHP:0001263
- 24 of 24 reported patients
- Intellectual disabilityHPOHP:0001249
- 24 of 24 reported patients
- MicrocephalyHPOHP:0000252
- 24 of 24 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 22 of 24 reported patients
- Delayed ability to sitHPOHP:0025336
- 10 of 14 reported patients
- HyporeflexiaHPOHP:0001265
- 10 of 15 reported patients
- Bilateral tonic-clonic seizure with generalized onsetHPOHP:0025190
- 14 of 24 reported patients
- Impaired tactile sensationHPOHP:0010830
- 5 of 12 reported patients
- Generalized hypotoniaHPOHP:0001290
- 7 of 17 reported patients
- Peripheral neuropathyHPOHP:0009830
- 5 of 17 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 2 of 10 reported patients
Show the remaining 13
- ClinodactylyHPOHP:0030084
- 3 of 22 reported patients
- Arachnoid cystHPOHP:0100702
- 1 of 10 reported patients
- Cerebral white matter hypoplasiaHPOHP:0012430
- 1 of 10 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 10 reported patients
- PachygyriaHPOHP:0001302
- 1 of 10 reported patients
- Focal-onset seizureHPOHP:0007359
- 2 of 24 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.
- NARS1HGNC:7643
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Moderate · ClinGen · Autosomal recessive · 2024
Where it sits
Other names
2 names
Resolves to: neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
- Also called
- NEDMILG, ARneurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive