intellectual developmental disorder, autosomal recessive 67
MONDO:0032662Mondo
Findings
No curated finding names intellectual developmental disorder, autosomal recessive 67 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
- Congenital onset · Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
19 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
- 21 of 21 reported patients
- Global developmental delayHPOHP:0001263
- 21 of 21 reported patients
- Delayed ability to walkHPOHP:0031936
- 14 of 20 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 12 of 21 reported patients
- HypotoniaHPOHP:0001252
- 10 of 21 reported patients
- Short statureHPOHP:0004322
- 8 of 21 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 7 of 20 reported patients
- Delayed ability to sitHPOHP:0025336
- 4 of 12 reported patients
- MicrocephalyHPOHP:0000252
- 6 of 19 reported patients
- Absent speechHPOHP:0001344
- 5 of 21 reported patients
- Sleep disturbanceHPOHP:0002360
- 5 of 21 reported patients
- Pes planusHPOHP:0001763
- 3 of 20 reported patients
Show the remaining 7
- SeizureHPOHP:0001250
- 3 of 20 reported patients
- Developmental regressionHPOHP:0002376
- 3 of 21 reported patients
- StrabismusHPOHP:0000486
- 3 of 21 reported patients
- MeningiomaHPOHP:0002858
- 2 of 21 reported patients
- ColobomaHPOHP:0000589
- 1 of 21 reported patients
- NystagmusHPOHP:0000639
- 1 of 21 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.
- EIF3FHGNC:3275
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2019
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021