intellectual developmental disorder with short stature and behavioral abnormalities
MONDO:0032870Mondo
Findings
No curated finding names intellectual developmental disorder with short stature and behavioral abnormalities yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
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.
- Generalized hypotoniaHPOHP:0001290
- 5 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- Motor delayHPOHP:0001270
- 5 of 5 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 5 of 5 reported patients
- Short statureHPOHP:0004322
- 5 of 5 reported patients
- Aggressive behaviorHPOHP:0000718
- 3 of 5 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 3 of 5 reported patients
- Delayed ability to walkHPOHP:0031936
- 3 of 5 reported patients
- SeizureHPOHP:0001250
- 3 of 5 reported patients
- Status epilepticusHPOHP:0002133
- 3 of 5 reported patients
- Absent speechHPOHP:0001344
- 2 of 5 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 5 reported patients
Show the remaining 2
- Gait ataxiaHPOHP:0002066
- 1 of 5 reported patients
- Visual impairmentHPOHP:0000505
- 1 of 5 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.
- IQSEC1HGNC:29112
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2019
- Limited · Ambry Genetics · Autosomal recessive · 2025
Where it sits
- A kind of