ODCs

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2 OMIM references -
2 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
16 signs/symptoms

Isolated cloverleaf skull syndrome

Autosomal dominant hypophosphatemic rickets

ERF	(UniProt - OMIM)		FGF23	(UniProt - OMIM)
FGFR3	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGFR3	(0.52)	FGF23

Citations in the biomedical literature:

Isolated cloverleaf skull syndrome		Autosomal dominant hypophosphatemic rickets
	Synonym(s): - Kleeblattschaedel syndrome		Synonym(s): - ADHR - Autosomal dominant hypophosphatemia

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: variable Average age of death: normal Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal dominant inheritance

Isolated cloverleaf skull syndrome		Autosomal dominant hypophosphatemic rickets
	Very frequent - 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		Very frequent - Asthenia / fatigue / weakness - Bone pain - Hypophosphatemia - Muscle weakness / flaccidity - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets Frequent - Mutiple fractures / bone fragility - Periarticular tissue anomaly / extraarticular calcifications Occasional - Anomalies of teeth and dentition - Heart / cardiac failure - Myocardium anomalies / myocarditis - Obnubilation / coma / lethargia / desorientation - Rachidian / spine canal stenosis - Seizures / epilepsy / absences / spasms / status epilepticus - Short stature / dwarfism / nanism - Structural anomalies of the respiratory system and diaphragm