Synonym(s): (no synonyms)
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
SLC25A19	Q9HC21	606521

- Autosomal recessive inheritance
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Death in infancy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Metabolic decompensation
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Organic acid metabolism anomalies
- Sloping forehead

- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Corpus callosum / septum pellucidum total / partial agenesis
- Dilated cerebral ventricles without hydrocephaly
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Spina bifida

- Fetal immobility / abnormal fetal movements
- Hepatomegaly / liver enlargement (excluding storage disease)
- Immobile soft palate / soft palate anomaly
- Poorly ossified skull / calvarium
- Restricted joint mobility / joint stiffness / ankylosis
- Seizures / epilepsy / absences / spasms / status epilepticus