MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY,AND SHORT STATURE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr:
OMIM Id: 609037
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Sporadic
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000455) Broad nasal tip 67 / 7739
2
 (HPO:0000319) Smooth philtrum 72 / 7739
3
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
4
 (HPO:0000316) Hypertelorism 644 / 7739
5
 (HPO:0000276) Long face 109 / 7739
6
 (HPO:0000252) Microcephaly 832 / 7739
7
 (HPO:0000648) Optic atrophy 238 / 7739
8
 (HPO:0000508) Ptosis 459 / 7739
9
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes 41 / 7739
10
 (HPO:0002136) Broad-based gait 30 / 7739
11
 (HPO:0002353) EEG abnormality 188 / 7739
12
 (HPO:0010864) Intellectual disability, severe 120 / 7739
13
 (HPO:0001250) Seizures 1245 / 7739
14
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
15
 (HPO:0001263) Global developmental delay 853 / 7739
16
 (HPO:0004322) Short stature 1232 / 7739
17
 (HPO:0003745) Sporadic 131 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: