ODCs

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Ear-patella-short stature syndrome

5 OMIM references -
5 associated genes
35 signs/symptoms

PROTEIN INTERACTIONS: 1

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

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

Ear-patella-short stature syndrome

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

CDC6	(UniProt - OMIM)	EP300	(UniProt - OMIM)
CDT1	(UniProt - OMIM)
ORC1	(UniProt - OMIM)
ORC4	(UniProt - OMIM)
ORC6	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CDT1	(0.52)	EP300

Citations in the biomedical literature:

Ear-patella-short stature syndrome		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
	Synonym(s): - Meier-Gorlin syndrome		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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: - Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

	External references: 5 OMIM references - 1 MeSH reference: C538012		External references: 1 OMIM reference - No MeSH references

Ear-patella-short stature syndrome
	Very frequent - Autosomal recessive inheritance - Delayed bone age - Epiphyseal anomaly - External auditory canal atresia / stenosis / agenesis - Failure to thrive / difficulties for feeding in infancy / growth delay - Hyperextensible joints / articular hyperlaxity - Hypoplastic mandibula / partial absence of the mandibula - Intrauterine growth retardation - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Microstomia / little mouth - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Narrowed / gracile diaphysis / diaphyses / long bones / dolichostenomelia - Short stature / dwarfism / nanism - Undescended / ectopic testes / cryptorchidia / unfixed testes Frequent - Camptodactyly of fingers - Clavicle absent / abnormal - Clinodactyly of fifth finger - Clitoris / labia majora / labia minora / female external genitalia hypoplasia - Craniostenosis / craniosynostosis / sutural synostosis - Female pseudohermaphrodism / virilisation / clitoridomegaly - High vaulted / narrow palate - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Low set ears / posteriorly rotated ears - Patella absent / abnormal (excluding luxation) - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Rib structure anomalies Occasional - Breast tissue / mammary gland absence / aplasia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Elbow dislocation - Hearing loss / hypoacusia / deafness - Hypospadias / epispadias / bent penis - Intellectual deficit / mental / psychomotor retardation / learning disability - Micropenis / small penis / agenesis - Thick lips
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
(no data available)