neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
MONDO:0032838Mondo
Findings
No curated finding names neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies 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
- Death in infancy
HPO, annotations 2026-09-02
Features
43 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.
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
- Progressive microcephalyHPOHP:0000253
- 9 of 10 reported patients
- Arthrogryposis multiplex congenitaHPOHP:0002804
- 17 of 20 reported patients · Congenital onset
- 1 of 21 reported patients
- Neonatal respiratory distressHPOHP:0002643
- 14 of 17 reported patients · Neonatal onset
- MicrocephalyHPOHP:0000252
- 15 of 21 reported patients
- Simplified gyral patternHPOHP:0009879
- 12 of 18 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 12 of 19 reported patients · Fetal onset
- HypertoniaHPOHP:0001276
- 9 of 15 reported patients
- SeizureHPOHP:0001250
- 10 of 17 reported patients
- Birth length less than 3rd percentileHPOHP:0003561
- 6 of 11 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 10 of 21 reported patients
- Premature birthHPOHP:0001622
- 7 of 18 reported patients
Show the remaining 31
- CNS hypomyelinationHPOHP:0003429
- 7 of 19 reported patients
- HypotoniaHPOHP:0001252
- 4 of 15 reported patients
- EpicanthusHPOHP:0000286
- 5 of 21 reported patients
- Short palpebral fissureHPOHP:0012745
- 4 of 21 reported patients
- Sloping foreheadHPOHP:0000340
- 4 of 21 reported patients
- Hypoplasia of the brainstemHPOHP:0002365
- 3 of 20 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.
- SMPD4HGNC:32949
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2024
- Moderate · Ambry Genetics · Autosomal recessive · 2019