neurodevelopmental disorder with microcephaly, short stature, and speech delay
MONDO:0859285Mondo
Findings
No curated finding names neurodevelopmental disorder with microcephaly, short stature, and speech delay 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
- Childhood onset
HPO, annotations 2026-09-02
Features
14 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
- 8 of 8 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 8 of 8 reported patients
- Global developmental delayHPOHP:0001263
- 8 of 8 reported patients
- HypotoniaHPOHP:0001252
- 8 of 8 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 10 of 10 reported patients
- MicrocephalyHPOHP:0000252
- 7 of 8 reported patients
- Aggressive behaviorHPOHP:0000718
- 1 of 2 reported patients
- Poor speechHPOHP:0002465
- 1 of 2 reported patients
- SeizureHPOHP:0001250
- 4 of 8 reported patients
- Absent speechHPOHP:0001344
- 3 of 8 reported patients
- Waddling gaitHPOHP:0002515
- 3 of 8 reported patients
- Short statureHPOHP:0004322
Show the remaining 2
- SynophrysHPOHP:0000664
- Upslanted palpebral fissureHPOHP:0000582
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.
- TRAPPC10HGNC:11868
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2022
- Limited · G2P · Autosomal recessive · 2021