ODCs

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7 OMIM references -
6 associated genes
12 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Hypotrichosis simplex

Hypomyelination with brain stem and spinal cord involvement and leg spasticity


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RPL21	(0.63)	DARS

Citations in the biomedical literature:

Hypotrichosis simplex		Hypomyelination with brain stem and spinal cord involvement and leg spasticity
	Synonym(s): - Hereditary hypotrichosis simplex		Synonym(s): - HBSL

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the skin and subcutaneous tissue -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant		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: 7 OMIM references - 1 MeSH reference: C537160		External references: 1 OMIM reference - No MeSH references

Hypotrichosis simplex
	Very frequent - Absent / decreased lashes - Absent / decreased / thin eyebrows - Alopecia - Autosomal dominant inheritance - Autosomal recessive inheritance - Decreased body hair / axillar / pubic hairlessness - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness Frequent - Lanugo - Woolly / frizzy hair Occasional - Follicular / erythematous / edematous papules / milium - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Pruritus / itching
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
(no data available)