MICROPHTHALMIA, SYNDROMIC 11

General Information (adopted from Orphanet):

Synonyms, Signs: MCOPS11
Number of Symptoms 16
OrphanetNr:
OMIM Id: 614402
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000204) Cleft upper lip 193 / 7739
2
 (HPO:0100336) Bilateral cleft lip 1 / 7739
3
 (HPO:0000568) Microphthalmia 183 / 7739
4
 (HPO:0000175) Cleft palate 349 / 7739
5
 (HPO:0100337) Bilateral cleft palate 1 / 7739
6
 (HPO:0001263) Global developmental delay 853 / 7739
7
 (OMIM) Weight in third centile 1 / 7739
8
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
 (OMIM) Head circumference in third centile 1 / 7739
10
 (OMIM) Vertical orientation of hippocampus 1 / 7739
11
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
12
 (OMIM) Height in third centile 1 / 7739
13
 (OMIM) Small optic nerve, bilateral 1 / 7739
14
 (OMIM) Agenesis of pineal gland 1 / 7739
15
 (OMIM) Microphthalmia, severe, bilateral 2 / 7739
16
 (HPO:0012687) Agenesis of pineal gland 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Slavotinek et al. (2012) studied an Egyptian boy, born of consanguineous parents, in whom bilateral severe microphthalmia and bilateral cleft lip and palate were noted at birth. At age 4 months, his development was delayed, he had no ...
Molecular genetics OMIM Slavotinek et al. (2012) sequenced the candidate genes VAX1 (604294) and VAX2 (604295) in 70 patients with clinical anophthalmia/microphthalmia and identified homozygosity for a VAX1 missense mutation (R152S; 604294.0001) in an Egyptian boy with bilateral severe microphthalmia and ...