intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities
MONDO:0957228Mondo
Findings
No curated finding names intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities 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
73 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
- 14 of 14 reported patients
- Intellectual disabilityHPOHP:0001249
- 12 of 12 reported patients
- Motor delayHPOHP:0001270
- 11 of 13 reported patients
- Autistic behaviorHPOHP:0000729
- 5 of 12 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 4 of 11 reported patients
- MicrocephalyHPOHP:0000252
- 4 of 11 reported patients
- Sleep disturbanceHPOHP:0002360
- 4 of 12 reported patients
- Aggressive behaviorHPOHP:0000718
- 3 of 11 reported patients
- AnxietyHPOHP:0000739
- 3 of 11 reported patients
- MacrocephalyHPOHP:0000256
- 3 of 11 reported patients
- High palateHPOHP:0000218
- 3 of 14 reported patients
- HypotoniaHPOHP:0001252
- 5 of 27 reported patients
Show the remaining 61
- Hair-pullingHPOHP:0012167
- 2 of 11 reported patients
- Pain insensitivityHPOHP:0007021
- 2 of 11 reported patients
- Sensory seekingHPOHP:4000079
- 2 of 11 reported patients
- EpicanthusHPOHP:0000286
- 2 of 14 reported patients
- Frontal bossingHPOHP:0002007
- 2 of 14 reported patients
- Joint hypermobilityHPOHP:0001382
- 2 of 14 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.
- RFX7HGNC:25777
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2025