intellectual developmental disorder, autosomal recessive 73
MONDO:0030533Mondo
Findings
No curated finding names intellectual developmental disorder, autosomal recessive 73 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 · Neonatal onset · Antenatal onset
HPO, annotations 2026-09-02
Features
35 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
- 5 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 3 of 3 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 2 of 5 reported patients
- Decreased fetal movementHPOHP:0001558
- 2 of 5 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 2 of 5 reported patients
- Generalized hypotoniaHPOHP:0001290
- 2 of 5 reported patients
- Single transverse palmar creaseHPOHP:0000954
- 2 of 5 reported patients
- Ventricular septal defectHPOHP:0001629
- 2 of 5 reported patients
- AutismHPOHP:0000717
- 1 of 5 reported patients
- Deep philtrumHPOHP:0002002
- 1 of 5 reported patients
- DolichocephalyHPOHP:0000268
- 1 of 5 reported patients
- DroolingHPOHP:0002307
- 1 of 5 reported patients
Show the remaining 23
- EpicanthusHPOHP:0000286
- 1 of 5 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 5 reported patients
- Gait ataxiaHPOHP:0002066
- 1 of 5 reported patients
- HyperreflexiaHPOHP:0001347
- 1 of 5 reported patients
- HypotoniaHPOHP:0001252
- 1 of 5 reported patients
- Impaired masticationHPOHP:0005216
- 1 of 5 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.
- NAA20HGNC:15908
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2023
- Limited · G2P · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: intellectual developmental disorder, autosomal recessive 73
- Also called
- MRT73