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7 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
15 signs/symptoms
Isolated anophthalmia - microphthalmia
Trisomy Xq28

ALDH1A3 MECP2
GDF3
OTX2
PRSS56
RAX
SOX2
VSX2


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Isolated anophthalmia - microphthalmia
ALDH1A3 GDF3 OTX2 PRSS56 RAX SOX2
VSX2
Trisomy Xq28
MECP2



Isolated anophthalmia - microphthalmia
Trisomy Xq28

Synonym(s):
- Clinical anophthalmia
- Isolated pure microphthalmia
- Primitive anophthalmia

Synonym(s):
- Distal duplication Xq
- Telomeric duplication Xq

Classification (Orphanet):
(no data available)
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:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
7 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


Isolated anophthalmia - microphthalmia

(no data available)