intellectual developmental disorder, autosomal recessive 71
MONDO:0032789Mondo
Findings
No curated finding names intellectual developmental disorder, autosomal recessive 71 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
17 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
- 7 of 7 reported patients
- Intellectual disabilityHPOHP:0001249
- 7 of 7 reported patients
- SeizureHPOHP:0001250
- 6 of 7 reported patients
- Arachnoid granulationHPOHP:0034454
- 1 of 3 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 2 of 7 reported patients
- Long faceHPOHP:0000276
- 2 of 7 reported patients
- MacrocephalyHPOHP:0000256
- 2 of 7 reported patients
- MacrotiaHPOHP:0000400
- 2 of 7 reported patients
- Prune bellyHPOHP:0004392
- 2 of 7 reported patients · Congenital onset
- CryptorchidismHPOHP:0000028
- 1 of 6 reported patients
- Deeply set eyeHPOHP:0000490
- 1 of 6 reported patients
- MicropenisHPOHP:0000054
- 1 of 6 reported patients
Show the remaining 5
- Motor stereotypyHPOHP:0000733
- 1 of 6 reported patients
- Abnormally large globeHPOHP:0001090
- 1 of 7 reported patients
- Increased overbiteHPOHP:0011094
- 1 of 7 reported patients
- Unilateral renal agenesisHPOHP:0000122
- 1 of 7 reported patients
- Ventricular septal defectHPOHP:0001629
- 1 of 7 reported patients · Congenital 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.
- ALKBH8HGNC:25189
- Definitive · G2P · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2022