syndromic microphthalmia 6

Term ID

DOID:0111805

Synonyms

• anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia
• Bakrania-Ragge syndrome
• MCOPS6
• microphthalmia and pituitary anomalies
• microphthalmia with brain and digit anomalies
• syndromic microphthalmia type 6

Definition

A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.2. (2)

References

• GARD:3645
• MESH:C566440
• OMIM:607932
• ORDO:139471
• SNOMEDCT_US_2023_03_01:721878003
• UMLS_CUI:C1864689

Ontology

Human Disease   ( DOID:0111805 )