microcephaly, developmental delay, and brittle hair syndrome
MONDO:0030047Mondo
Findings
No curated finding names microcephaly, developmental delay, and brittle hair syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
49 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.
- Delayed fine motor developmentHPOHP:0010862
- 4 of 4 reported patients
- Delayed gross motor developmentHPOHP:0002194
- 4 of 4 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 4 of 4 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 4 of 4 reported patients
- Fine hairHPOHP:0002213
- 3 of 4 reported patients
- Broad-based gaitHPOHP:0002136
- 2 of 4 reported patients
- Failure to thrive in infancyHPOHP:0001531
- 2 of 4 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 2 of 4 reported patients · Antenatal onset
- MicrocephalyHPOHP:0000252
- 2 of 4 reported patients
- Narrow noseHPOHP:0000460
- 2 of 4 reported patients
- Short statureHPOHP:0004322
- 2 of 4 reported patients
- Type II diabetes mellitusHPOHP:0005978
- 2 of 4 reported patients
Show the remaining 37
- Abnormal pyramidal signHPOHP:0007256
- 1 of 4 reported patients
- Ankle clonusHPOHP:0011448
- 1 of 4 reported patients
- Aortic root aneurysmHPOHP:0002616
- 1 of 4 reported patients
- Atrial septal defectHPOHP:0001631
- 1 of 4 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 4 reported patients
- Brisk reflexesHPOHP:0001348
- 1 of 4 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.
- CARS1HGNC:1493
- Strong · G2P · Autosomal recessive · 2024
- Moderate · Ambry Genetics · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: microcephaly, developmental delay, and brittle hair syndrome
- Also called
- MDBH