ODCs

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1 OMIM reference -
1 associated gene
23 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 11

2 OMIM references -
1 associated gene
11 signs/symptoms

Syndromic X-linked ichthyosis

Recessive X-linked ichthyosis

STS

STS

Citations in the biomedical literature:

Syndromic X-linked ichthyosis		Recessive X-linked ichthyosis
	Synonym(s): - Syndromic RXLI - Syndromic recessive X-linked ichthyosis		Synonym(s): - RXLI - Steroid sulfatase deficiency - X-linked ichthyosis - XLI

	Classification (Orphanet): - Rare genetic disease - Rare skin 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: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: - Type of inheritance: x-linked recessive		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


COMMON SIGNS	- Autism / autistic disoders - Corneal clouding / opacity / vascularisation - Dry / squaly skin / exfoliation - Hyperactivity / attention deficit - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Ichthyosis / ichthyosiform dermatitis - Insterstitial / subtelomeric microdeletion / deletion - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Undescended / ectopic testes / cryptorchidia / unfixed testes - X-linked recessive inheritance

Syndromic X-linked ichthyosis		Recessive X-linked ichthyosis
	Frequent - Intellectual deficit / mental / psychomotor retardation / learning disability Occasional - Acute leukemia - Agenesis / hypoplasia / aplasia of kidneys - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Anomalies of the abdominal wall - Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia - Late puberty / hypogonadism / hypogenitalism - Renal failure - Seizures / epilepsy / absences / spasms / status epilepticus - Short stature / dwarfism / nanism - Stomach / gastric anomaly - Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)		(no more signs)