intellectual developmental disorder, autosomal recessive 68
MONDO:0032665Mondo
Findings
No curated finding names intellectual developmental disorder, autosomal recessive 68 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
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.
- Cerebellar atrophyHPOHP:0001272
- 2 of 2 reported patients
- Delayed ability to walkHPOHP:0031936
- 3 of 3 reported patients
- Pes planusHPOHP:0001763
- 2 of 2 reported patients · Juvenile onset
- SeizureHPOHP:0001250
- 4 of 4 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 4 reported patients · Congenital onset
- Global developmental delayHPOHP:0001263
- 3 of 5 reported patients
- Hypoplasia of the maxillaHPOHP:0000327
- 3 of 5 reported patients
- SynophrysHPOHP:0000664
- 3 of 5 reported patients
- Wide nasal bridgeHPOHP:0000431
- 3 of 5 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 4 of 7 reported patients
- Small for gestational ageHPOHP:0001518
- 3 of 7 reported patients
- Broad eyebrowHPOHP:0011229
- 2 of 5 reported patients
Show the remaining 7
- Narrow palpebral fissureHPOHP:0045025
- 2 of 5 reported patients
- Protruding earHPOHP:0000411
- 2 of 5 reported patients
- HydrocephalusHPOHP:0000238
- 1 of 4 reported patients
- HypotoniaHPOHP:0001252
- 1 of 4 reported patients
- Motor delayHPOHP:0001270
- 1 of 4 reported patients
- Muscle weaknessHPOHP:0001324
- 1 of 4 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.
- TRMT1HGNC:25980
- Definitive · Ambry Genetics · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2019
- Limited · G2P · Autosomal recessive · 2015