neurodevelopmental disorder with alopecia and brain abnormalities
MONDO:0033642Mondo
Findings
No curated finding names neurodevelopmental disorder with alopecia and brain abnormalities yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
75 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.
- Absent eyebrowHPOHP:0002223
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Cupped earHPOHP:0000378
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 3 of 3 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 3 of 3 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 1 of 1 reported patient · Neonatal onset
- Generalized hypotoniaHPOHP:0001290
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- High foreheadHPOHP:0000348
- 4 of 4 reported patients
- High palateHPOHP:0000218
- 1 of 1 reported patient
- HyperbilirubinemiaHPOHP:0002904
- 1 of 1 reported patient · Neonatal onset
- HypertelorismHPOHP:0000316
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- HypoglycemiaHPOHP:0001943
- 1 of 1 reported patient · Neonatal onset
Show the remaining 63
- Lower limb spasticityHPOHP:0002061
- 1 of 1 reported patient
- MacrocephalyHPOHP:0000256
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Neonatal hypotoniaHPOHP:0001319
- 1 of 1 reported patient · Neonatal onset
- Frequent (30% to 79% of cases)
- Periventricular cystsHPOHP:0007109
- 1 of 4 reported patients
- 1 of 1 reported patient · Neonatal onset
- Occasional (5% to 29% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
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.
- ODC1HGNC:8109
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: neurodevelopmental disorder with alopecia and brain abnormalities
- Also called
- Bachmann-Bupp syndromeglobal developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeNEDABA