intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
MONDO:0032687Mondo
Findings
No curated finding names intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 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
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
41 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 speech and language developmentHPOHP:0000750
- 9 of 9 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 9 of 9 reported patients
- Aggressive behaviorHPOHP:0000718
- 7 of 8 reported patients
- MicrocephalyHPOHP:0000252
- 7 of 8 reported patients
- Short statureHPOHP:0004322
- 6 of 8 reported patients
- Smooth philtrumHPOHP:0000319
- 6 of 8 reported patients
- Anteverted naresHPOHP:0000463
- 2 of 3 reported patients
- Decreased body weightHPOHP:0004325
- 4 of 6 reported patients
- Deeply set eyeHPOHP:0000490
- 2 of 3 reported patients
- Infra-orbital creaseHPOHP:0100876
- 2 of 3 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 2 of 3 reported patients
Show the remaining 29
- Everted lower lip vermilionHPOHP:0000232
- 5 of 8 reported patients
- Thick vermilion borderHPOHP:0012471
- 3 of 5 reported patients
- Motor delayHPOHP:0001270
- 3 of 6 reported patients
- VentriculomegalyHPOHP:0002119
- 1 of 2 reported patients
- HypodontiaHPOHP:0000668
- 2 of 5 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 3 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.
- PUS7HGNC:26033
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2019
Where it sits
- A kind of