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Colobomatous microphthalmia
9 OMIM references -
8 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Trisomy Xq28
1 OMIM reference -
1 associated gene
15 signs/symptoms
Colobomatous microphthalmia
Trisomy Xq28

ABCB6
(UniProt - OMIM)
 MECP2
(UniProt - OMIM)
GDF3
(UniProt - OMIM)
GDF6
(UniProt - OMIM)
SHH
(UniProt - OMIM)
SOX2
(UniProt - OMIM)
STRA6
(UniProt - OMIM)
TENM3
(UniProt - OMIM)
VSX2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SOX2
(0.63)
MECP2


Citations in the biomedical literature:


Colobomatous microphthalmia
ABCB6 GDF3 GDF6 SHH SOX2 STRA6
TENM3 VSX2
Trisomy Xq28
MECP2



Colobomatous microphthalmia
Trisomy Xq28

Synonym(s):
- MAC
- Microphthalmia - anophthalmia - coloboma
- Microphthalmia with colobomatous cyst
Synonym(s):
- Distal duplication Xq
- Telomeric duplication Xq
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
9 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Trisomy Xq28

Very frequent
- Blepharophimosis / short palpebral fissures
- Delayed bone age
- Epicanthic folds
- Everted lower lip
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Ptosis
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tented upper lip
- Total / partial trisomy / duplication
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Frequent
- Abnormal gait
- Inguinal / inguinoscrotal / crural hernia
- Pectus excavatum

Occasional
- Restricted joint mobility / joint stiffness / ankylosis


Colobomatous microphthalmia

(no data available)