ODCs

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

PROTEIN INTERACTIONS: 1

2 OMIM references -
2 associated genes
No signs/symptoms info

Short stature - pituitary and cerebellar defects - small sella turcica

Saldino-Mainzer syndrome

LHX4	(UniProt - OMIM)		IFT140	(UniProt - OMIM)
			IFT172	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LHX4	(0.76)	IFT172

Citations in the biomedical literature:

Short stature - pituitary and cerebellar defects - small sella turcica		Saldino-Mainzer syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Conorenal syndrome - Renal dysplasia - retinal pigmentary dystrophy - cerebellar ataxia - skeletal dysplasia

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare renal disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: C535463

No signs/symptoms info available.