Synonym(s): - Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome
Classification (Orphanet): - Rare genetic disease - Rare neurologic disease - Rare skin 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: any age Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
SNAP29	O95721	604202

- Absent / hypotonic / flaccid abdominal wall muscles
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- High nasal bridge
- Hypertelorism
- Ichthyosis / ichthyosiform dermatitis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long face
- Microcephaly
- Palmoplantar hyperkeratosis / keratoderma

- Abnormal eye movements / oculomotor disorder
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Areflexia / hyporeflexia
- Corpus callosum / septum pellucidum total / partial agenesis
- Nerve conduction abnormality
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Peripheral neuropathy

- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Anomalies of eyes and vision
- Cardiomyopathy / hypertrophic / dilated
- Dolichocephaly / scaphocephaly
- Flattened nose
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Heart / cardiac failure
- Late puberty / hypogonadism / hypogenitalism
- Long / large ear
- Nephrotic syndrome
- Pericardium anomalies / pericarditis / absence / cysts / pericardial effusion
- Proteinuria
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Short stature / dwarfism / nanism
- Transient cerebral ischemia / stroke