Microcephaly, developmental delay, and brittle hair syndrome

Preferred Label : Microcephaly, developmental delay, and brittle hair syndrome;

Symbol : MDBH;

CISMeF acronym : MDBH;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cysteinyl-tRNA synthetase-1 gene (CARS1, 123859.0001);

Prefixed ID : #618891;

Details

Origin ID

618891;

UMLS CUI

C5394425;

Automatic exact mappings (from CISMeF team)
- CARS1 wt Allele [NCIt concept]
Genes related to phenotype
- Cysteinyl-trna synthetase 1 [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Ankle clonus [HPO term]
- Aortic root aneurysm [HPO term]
- Atrial septal defect [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brisk reflexes [HPO term]
- Brittle hair [HPO term]
- Broad-based gait [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Chordee [HPO term]
- Deeply set eye [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed fine motor development [HPO term]
- Delayed gross motor development [HPO term]
- Delayed puberty [HPO term]
- Delayed speech and language development [HPO term]
- Depression [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Dystonia [HPO term]
- Failure to thrive in infancy [HPO term]
- Feeding difficulties in infancy [HPO term]
- Fine hair [HPO term]
- Flexion contracture [HPO term]
- Generalized limb muscle atrophy [HPO term]
- High forehead [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, mild [HPO term]
- Intrauterine growth retardation [HPO term]
- Irritability [HPO term]
- Microcephaly [HPO term]
- Narrow forehead [HPO term]
- Narrow nose [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Pendular nystagmus [HPO term]
- Pes cavus [HPO term]
- Poor coordination [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Sleep disturbance [HPO term]
- Small for gestational age [HPO term]
- Sparse hair [HPO term]
- Status epilepticus [HPO term]
- Submucous cleft hard palate [HPO term]
- Talipes valgus [HPO term]
- Type II diabetes mellitus [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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