intellectual developmental disorder, autosomal recessive 78
MONDO:0859373Mondo
Findings
No curated finding names intellectual developmental disorder, autosomal recessive 78 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
21 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.
- MicrocephalyHPOHP:0000252
- 6 of 6 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 5 of 6 reported patients
- Cubitus valgusHPOHP:0002967
- 2 of 6 reported patients
- High palateHPOHP:0000218
- 2 of 6 reported patients
- MicroretrognathiaHPOHP:0000308
- 2 of 6 reported patients
- Narrow chestHPOHP:0000774
- 2 of 6 reported patients
- Optic neuropathyHPOHP:0001138
- 2 of 6 reported patients
- AsthmaHPOHP:0002099
- 1 of 6 reported patients
- BrachydactylyHPOHP:0001156
- 1 of 6 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 6 reported patients
- Delayed skeletal maturationHPOHP:0002750
- 1 of 6 reported patients
- ExotropiaHPOHP:0000577
- 1 of 6 reported patients
Show the remaining 9
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 1 of 6 reported patients
- Hypopigmentation of the skinHPOHP:0001010
- 1 of 6 reported patients
- KyphoscoliosisHPOHP:0002751
- 1 of 6 reported patients
- NystagmusHPOHP:0000639
- 1 of 6 reported patients
- Pectus excavatumHPOHP:0000767
- 1 of 6 reported patients
- RetrognathiaHPOHP:0000278
- 1 of 6 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.
- WDR11HGNC:13831
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2021