intellectual developmental disorder, autosomal recessive 70
MONDO:0032729Mondo
Findings
No curated finding names intellectual developmental disorder, autosomal recessive 70 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
HPO, annotations 2026-09-02
Features
16 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.
- Attention deficit hyperactivity disorderHPOHP:0007018
- 4 of 4 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 4 of 4 reported patients
- DroolingHPOHP:0002307
- 5 of 5 reported patients
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 5 of 5 reported patients · Childhood onset
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- HypotoniaHPOHP:0001252
- 5 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 8 of 8 reported patients
- Motor delayHPOHP:0001270
- 5 of 5 reported patients
- RetrognathiaHPOHP:0000278
- 5 of 5 reported patients
- Severe temper tantrumsHPOHP:0025162
- 4 of 4 reported patients
- Urinary incontinenceHPOHP:0000020
- 4 of 4 reported patients
- Wide nasal bridgeHPOHP:0000431
- 5 of 5 reported patients
Show the remaining 4
- Autistic behaviorHPOHP:0000729
- 1 of 4 reported patients
- SeizureHPOHP:0001250
- 1 of 4 reported patients
- MicrocephalyHPOHP:0000252
- 1 of 5 reported patients
- HypertelorismHPOHP:0000316
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.
- RSRC1HGNC:24152
- Definitive · G2P · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020