ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
21 signs/symptoms

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Hartsfield-Bixler-Demyer syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CREBBP	(0.67)	FGFR1

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		Hartsfield-Bixler-Demyer syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Holoprosencephaly - ectrodactyly - cleft lip palate

	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 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: - Average age of death: - Type of inheritance: autosomal dominant

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

Hartsfield-Bixler-Demyer syndrome
	Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Corpus callosum / septum pellucidum total / partial agenesis - Craniostenosis / craniosynostosis / sutural synostosis - Depressed nasal bridge - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Encephalocele / exencephaly - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hypertelorism - Intrauterine growth retardation - Lateral cleft lip / gingival cleft / paramedian nasal cleft - Low set ears / posteriorly rotated ears - Oligodactyly / ectrodactyly of fingers - Ptosis - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Single nare / abouphalia - Stillbirth / neonatal death - Telecanthus / canthal dystopy Frequent - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Trident hand / split hand / abnormal median ray
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
(no data available)