ODCs

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Diaphanospondylodysostosis

1 OMIM reference -
1 associated gene
11 signs/symptoms

PROTEIN INTERACTIONS: 1

Microphthalmia with brain and digit anomalies

1 OMIM reference -
1 associated gene
23 signs/symptoms

Diaphanospondylodysostosis

Microphthalmia with brain and digit anomalies

BMPER

(UniProt - OMIM)

BMP4

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BMPER	(0.52)	BMP4

Citations in the biomedical literature:

Diaphanospondylodysostosis		Microphthalmia with brain and digit anomalies
	Synonym(s): (no synonyms)		Synonym(s): - Bakrania-Ragge syndrome - MCOPS6 - Syndromic microphthalmia type 6

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic 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: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

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

Diaphanospondylodysostosis		Microphthalmia with brain and digit anomalies
	Very frequent - Autosomal recessive inheritance - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Myelomeningocele - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Polycystic kidneys - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Rib number anomalies - Short neck - Short rib cage / thorax - Stillbirth / neonatal death - Vertebral segmentation anomaly / hemivertebrae		Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia Frequent - Cataract / lens opacification - Coloboma of iris - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcornea - Retinoschisis / retinal / chorioretinal coloboma Occasional - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Corpus callosum / septum pellucidum total / partial agenesis - Cryptophthalmia / ankyloblepharon / synblepharon - Dysplastic / thick / grooved fingernails - High vaulted / narrow palate - Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies - Microcephaly - Myopia - Nystagmus - Postaxial polydactyly of toes / fifth supernumerary toe - Proximally set thumb - Retinal / chorioretinal dysplasia / dystrophy - Sclerocornea - Seizures / epilepsy / absences / spasms / status epilepticus - Sensorineural deafness / hearing loss - Syndactyly of fingers / interdigital palm - Undescended / ectopic testes / cryptorchidia / unfixed testes