Brain calcification, Rajab type

General Information (adopted from Orphanet):

Synonyms, Signs: DEVELOPMENTAL DELAY, SMALL STATURE, MICROCEPHALY, AND BRAIN CALCIFICATIONS
Number of Symptoms 11
OrphanetNr: 178506
OMIM Id: 613658
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Rare genetic neurological disease
 -Rare genetic disease
Rare neurologic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly 832 / 7739
2
(HPO:0001328) Specific learning disability 114 / 7739
3
(HPO:0002315) Headache 175 / 7739
4
(HPO:0002750) Delayed skeletal maturation 250 / 7739
5
(HPO:0004322) Short stature 1232 / 7739
6
(OMIM) Widespread brain calcifications 1 / 7739
7
(OMIM) Thin build 1 / 7739
8
(OMIM) Postnatal growth delay 3 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
(OMIM) Poor muscle mass 1 / 7739
11
(OMIM) Thin cortex bone 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Rajab et al. (2009) described 2 interrelated Omani families in which 8 children had brain calcifications of basal ganglia and cortex, mild developmental delay, poor school performance, microcephaly, growth delay, and osteopenia. The widespread brain calcifications were similar ...