ABCD syndrome
MONDO:0010895Mondo
Findings
No curated finding names ABCD syndrome 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
- Congenital onset · Neonatal death
HPO, annotations 2026-09-02
Features
10 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 auditory evoked potentialsHPOHP:0006958
- 1 of 1 reported patient
- Aganglionic megacolonHPOHP:0002251
- 1 of 1 reported patient
- AlbinismHPO · MondoHP:0001022
- 1 of 1 reported patient
- Hearing impairmentHPOHP:0000365
- 1 of 1 reported patient
- Large for gestational ageHPOHP:0001520
- 1 of 1 reported patient
- PolycythemiaHPOHP:0001901
- 1 of 1 reported patient
- Total intestinal aganglionosisHPOHP:0005241
- 1 of 1 reported patient
- White eyebrowHPOHP:0002226
- 1 of 1 reported patient
- White eyelashesHPOHP:0002227
- 1 of 1 reported patient
- Sensorineural hearing impairmentMondoHP:0000407
Where it sits
- A kind of
Other names
1 name
Resolves to: ABCD syndrome
- Also called
- albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness