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Microphthalmia with brain and digit anomalies
1 OMIM reference -
1 associated gene
18 connected diseases
23 signs/symptoms
Disease Type of connection
14q22q23 microdeletion syndrome
Brachydactyly type A2
Brachydactyly type C
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary mixed polyposis syndrome
Hereditary nonpolyposis colon cancer
Heritable pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension
Juvenile polyposis of infancy
Pulmonary venoocclusive disease
Brachydactyly type B2
Multiple synostoses syndrome
Proximal symphalangism
Stapes ankylosis with broad thumbs and toes
Tarsal-carpal coalition syndrome
CARASIL
Isolated congenital megalocornea
Diaphanospondylodysostosis
Synonym(s):
- Bakrania-Ragge syndrome
- MCOPS6
- Syndromic microphthalmia type 6
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
BMP4 P12644112262
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