intellectual developmental disorder, autosomal recessive 83
MONDO:0976231Mondo
Findings
No curated finding names intellectual developmental disorder, autosomal recessive 83 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
59 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.
- Bilateral tonic-clonic seizureHPOHP:0002069
- 3 of 3 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 1 reported patient
- Conductive hearing impairmentHPOHP:0000405
- 2 of 2 reported patients
- Focal autonomic seizureHPOHP:0011154
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Maintenance insomniaHPOHP:0031355
- 1 of 1 reported patient
- Mild intellectual disabilityHPOHP:0001256
- 1 of 1 reported patient
- Moderate intellectual disabilityHPOHP:0002342
- 4 of 4 reported patients
- Nail-bitingHPOHP:0012170
- 1 of 1 reported patient
- Receptive language delayHPOHP:0010863
- 4 of 4 reported patients
- Relative macrocephalyHPOHP:0004482
- 1 of 1 reported patient
- Severe intellectual disabilityHPOHP:0010864
- 2 of 2 reported patients
Show the remaining 47
- Sleep onset insomniaHPOHP:0031354
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 4 of 5 reported patients
- Small for gestational ageHPOHP:0001518
- 5 of 7 reported patients
- Absent speechHPOHP:0001344
- 2 of 3 reported patients
- Deep philtrumHPOHP:0002002
- 4 of 6 reported patients
- SeizureHPOHP:0001250
- 4 of 6 reported patients