ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
17 signs/symptoms

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

RAPADILINO syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EP300	(0.7)	RECQL4

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		RAPADILINO syndrome

	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 (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

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

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535288

RAPADILINO syndrome
	Very frequent - Autosomal recessive inheritance - Intrauterine growth retardation - Malabsorption / chronic diarrhea / steatorrhea - Narrow nasal bridge - Patella absent / abnormal (excluding luxation) - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Short stature / dwarfism / nanism - Thumb hypoplasia / aplasia / absence Frequent - Cafe-au-lait spot - Failure to thrive / difficulties for feeding in infancy / growth delay - High vaulted / narrow palate - Hyperextensible joints / articular hyperlaxity Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Hearing loss / hypoacusia / deafness - Lymphoma - Sarcoma - Vertebral segmentation anomaly / hemivertebrae
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
(no data available)