intellectual developmental disorder, autosomal recessive 79
MONDO:0957288Mondo
Findings
No curated finding names intellectual developmental disorder, autosomal recessive 79 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
23 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.
- Broad nasal tipHPOHP:0000455
- 2 of 2 reported patients
- Deeply set eyeHPOHP:0000490
- 2 of 2 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 2 of 2 reported patients
- Slender fingerHPOHP:0001238
- 2 of 2 reported patients
- Broad-based gaitHPOHP:0002136
- 1 of 2 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 2 reported patients
- Eczematoid dermatitisHPOHP:0000964
- 1 of 2 reported patients
- Gait ataxiaHPOHP:0002066
- 1 of 2 reported patients
- HypotoniaHPOHP:0001252
- 1 of 2 reported patients
Show the remaining 11
- IncoordinationHPOHP:0002311
- 1 of 2 reported patients
- Intention tremorHPOHP:0002080
- 1 of 2 reported patients
- Long fingersHPOHP:0100807
- 1 of 2 reported patients
- OligomenorrheaHPOHP:0000876
- 1 of 2 reported patients
- Pes planusHPOHP:0001763
- 1 of 2 reported patients
- Short halluxHPOHP:0010109
- 1 of 2 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.
- TPRHGNC:12017
- Limited · Ambry Genetics · Autosomal recessive · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023
- Limited · PanelApp Australia · Autosomal recessive · 2025