intellectual developmental disorder, autosomal dominant 72
MONDO:0957397Mondo
Findings
No curated finding names intellectual developmental disorder, autosomal dominant 72 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
33 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
- 22 of 22 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 16 of 19 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 16 of 20 reported patients
- Deeply set eyeHPOHP:0000490
- 10 of 22 reported patients
- Autistic behaviorHPOHP:0000729
- 9 of 22 reported patients
- Bulbous noseHPOHP:0000414
- 9 of 22 reported patients
- Delayed ability to walkHPOHP:0031936
- 8 of 22 reported patients
- OverfriendlinessHPOHP:0100025
- 8 of 22 reported patients
- ObesityHPOHP:0001513
- 7 of 22 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 7 of 22 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 6 of 22 reported patients
- Broad chinHPOHP:0011822
- 6 of 22 reported patients
Show the remaining 21
- Broad palmHPOHP:0001169
- 6 of 22 reported patients
- Smooth philtrumHPOHP:0000319
- 6 of 22 reported patients
- MicropenisHPOHP:0000054
- 1 of 4 reported patients
- Facial hypotoniaHPOHP:0000297
- 5 of 22 reported patients
- Feeding difficultiesHPOHP:0011968
- 5 of 22 reported patients
- HypotoniaHPOHP:0001252
- 4 of 22 reported patients · Neonatal onset
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.
- SRRM2HGNC:16639
- Definitive · Ambry Genetics · Autosomal dominant · 2023
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
4 names
Resolves to: intellectual developmental disorder, autosomal dominant 72
- Also called
- autosomal dominant intellectual developmental disorder-72developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndromeMRD72SRRM2-related neurodevelopmental disorder