neurodevelopmental disorder with central and peripheral motor dysfunction
MONDO:0032698Mondo
Findings
No curated finding names neurodevelopmental disorder with central and peripheral motor dysfunction 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
- Neonatal onset
HPO, annotations 2026-09-02
Features
13 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.
- 11 pairs of ribsHPOHP:0000878
- 1 of 1 reported patient
- Congenital laryngeal stridorHPOHP:0004886
- 1 of 1 reported patient · Congenital onset
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- GlossoptosisHPOHP:0000162
- 1 of 1 reported patient
- Hyperextensibility of the finger jointsHPOHP:0001187
- 1 of 1 reported patient
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- HypertoniaHPOHP:0001276
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- MicrognathiaHPOHP:0000347
- 1 of 1 reported patient
- Neonatal respiratory distressHPOHP:0002643
- 1 of 1 reported patient · Neonatal onset
- Recurrent respiratory infectionsHPOHP:0002205
- 1 of 1 reported patient
- Small anterior fontanelleHPOHP:0000237
- 1 of 1 reported patient
Show the remaining 1
- Wide nasal bridgeHPOHP:0000431
- 1 of 1 reported patient
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.
- NFASCHGNC:29866
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2019
- Limited · Ambry Genetics · Autosomal dominant · 2018