GROWTH FAILURE, MICROCEPHALY, MENTAL RETARDATION, CATARACTS, LARGEJOINT CONTRACTURES, OSTEOPOROSIS, CORTICAL DYSPLASIA, AND CEREBELLARATROPHY

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 16
OrphanetNr:
OMIM Id: 608278
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:0000252) Microcephaly 832 / 7739
2
 (HPO:0000336) Prominent supraorbital ridges 45 / 7739
3
 (HPO:0000519) Congenital cataract 73 / 7739
4
 (HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
5
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
6
 (HPO:0010864) Intellectual disability, severe 120 / 7739
7
 (HPO:0001270) Motor delay 322 / 7739
8
 (HPO:0005781) Contractures of the large joints 2 / 7739
9
 (HPO:0000939) Osteoporosis 129 / 7739
10
 (HPO:0008897) Postnatal growth retardation 113 / 7739
11
 (HPO:0004322) Short stature 1232 / 7739
12
 (HPO:0001272) Cerebellar atrophy 197 / 7739
13
 (OMIM) Motor developmental delay, severe 1 / 7739
14
 (OMIM) No speech 1 / 7739
15
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
16
 (HPO:0002539) Cortical dysplasia 19 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: