ODCs

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2 OMIM references -
2 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1

1 associated gene
No signs/symptoms info

Isolated cloverleaf skull syndrome

Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

ERF	(UniProt - OMIM)		STAT1	(UniProt - OMIM)
FGFR3	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGFR3	(0.66)	STAT1

Citations in the biomedical literature:

Isolated cloverleaf skull syndrome		Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
	Synonym(s): - Kleeblattschaedel syndrome		Synonym(s): - MSMD due to partial STAT1 deficiency - MSMD due to partial signal transducer and activator of transcription 1 deficiency - Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare immune disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

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

	External references: 2 OMIM references - No MeSH references		External references: No OMIM references No MeSH references

Isolated cloverleaf skull syndrome
	Very frequent - Autosomal dominant inheritance - Beaked nose - Depressed premaxillary region / midface - High forehead - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears - Mid-facial hypoplasia / short / small midface - Proptosis / exophthalmos - Stillbirth / neonatal death Frequent - Abnormal vertebral size / shape - Craniostenosis / craniosynostosis / sutural synostosis - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Restricted joint mobility / joint stiffness / ankylosis - Syndactyly of fingers / interdigital palm
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
(no data available)