ODCs

Click node...

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

2 OMIM references -
4 associated genes
9 signs/symptoms

Skin fragility-woolly hair-palmoplantar keratoderma syndrome

Pontocerebellar hypoplasia type 1


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DSP	(0.63)	VRK1

Citations in the biomedical literature:

Skin fragility-woolly hair-palmoplantar keratoderma syndrome		Pontocerebellar hypoplasia type 1
	Synonym(s): - Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome		Synonym(s): - Norman disease - PCH1

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: C548069

Pontocerebellar hypoplasia type 1
	Very frequent - Autosomal recessive inheritance - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Hypertonia / spasticity / rigidity / stiffness - Microcephaly - Restricted joint mobility / joint stiffness / ankylosis - Seizures / epilepsy / absences / spasms / status epilepticus - Stillbirth / neonatal death Frequent - Clinodactyly of fingers 1,2,3,4 / overlapping fingers
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
(no data available)