ODCs

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

PROTEIN INTERACTIONS: 1

2 OMIM references -
1 associated gene
11 signs/symptoms

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

Recessive X-linked ichthyosis


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CBL	(0.63)	STS

Citations in the biomedical literature:

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia		Recessive X-linked ichthyosis
	Synonym(s): - CBL syndrome - Noonan syndrome-like disorder with JMML		Synonym(s): - RXLI - Steroid sulfatase deficiency - X-linked ichthyosis - XLI

	Classification (Orphanet): - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease		Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare skin disease

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

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: x-linked recessive

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: D016114

Recessive X-linked ichthyosis
	Very frequent - Dry / squaly skin / exfoliation - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Ichthyosis / ichthyosiform dermatitis - Insterstitial / subtelomeric microdeletion / deletion - X-linked recessive inheritance Frequent - Corneal clouding / opacity / vascularisation - Hyperactivity / attention deficit Occasional - Autism / autistic disoders - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Undescended / ectopic testes / cryptorchidia / unfixed testes
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
(no data available)