AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
MONDO:0014358Mondo
Findings
No curated finding names AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
194 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.
- Abnormal corpus callosum morphologyHPOHP:0001273
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Abnormal curvature of the vertebral columnHPOHP:0010674
- 1 of 1 reported patient
- Abnormality of the cochlear nerveHPOHP:0011396
- 1 of 1 reported patient
- Abnormality of the headHPOHP:0000234
- 1 of 1 reported patient
- AmblyopiaHPOHP:0000646
- 1 of 1 reported patient
- Ankle clonusHPOHP:0011448
- 2 of 2 reported patients
- AstigmatismHPOHP:0000483
- 2 of 2 reported patients
- Babinski signHPOHP:0003487
- 1 of 1 reported patient
- Bicoronal synostosisHPOHP:0011318
- 1 of 1 reported patient
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 1 reported patient
- Bilateral tonic-clonic seizure with focal onsetHPOHP:0007334
- 1 of 1 reported patient
- BrachydactylyHPOHP:0001156
- 2 of 2 reported patients
Show the remaining 182
- BradykinesiaHPOHP:0002067
- 1 of 1 reported patient
- Broad-based gaitHPOHP:0002136
- 1 of 1 reported patient
- Cerebral atrophyHPOHP:0002059
- 4 of 4 reported patients
- Chronic otitis mediaHPOHP:0000389
- 1 of 1 reported patient
- Congenital hip dislocationHPOHP:0001374
- 1 of 1 reported patient
- ConstipationHPOHP:0002019
- 1 of 1 reported patient
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.
- AHDC1HGNC:25230
- Definitive · ClinGen · Autosomal dominant · 2021
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Illumina · Autosomal dominant · 2018
- Strong · Illumina · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
- Also called
- autosomal dominant intellectual disability 25Xia-Gibbs syndrome