Microcephalic primordial dwarfism, Alazami type

General Information (adopted from Orphanet):

Synonyms, Signs: FACIAL DYSMORPHISM, INTELLECTUAL DISABILITY, AND PRIMORDIAL DWARFISM
ALAZS
Number of Symptoms 13
OrphanetNr: 319671
OMIM Id: 615071
ICD-10: Q87.1
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: Microcephalic primordial dwarfism
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000154) Wide mouth 137 / 7739
2
 (HPO:0000445) Wide nose 190 / 7739
3
 (HPO:0000252) Microcephaly 832 / 7739
4
 (HPO:0000272) Malar flattening 277 / 7739
5
 (HPO:0000322) Short philtrum 130 / 7739
6
 (HPO:0010864) Intellectual disability, severe 120 / 7739
7
 (HPO:0002650) Scoliosis 705 / 7739
8
 (HPO:0004325) Decreased body weight 492 / 7739
9
 (HPO:0004322) Short stature 1232 / 7739
10
 (HPO:0003510) Severe short stature 90 / 7739
11
 (OMIM) Epiphyseal changes in the proximal phalanges, mild 1 / 7739
12
 (OMIM) Deep-seated eyes 1 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Alazami et al. (2012) described a large consanguineous family from the Southern Province in Saudi Arabia in which 10 children among 3 interrelated branches had facial dysmorphism, severe intellectual disability, and primordial dwarfism. All patients had growth parameters ...
Molecular genetics OMIM By sequencing the LARP7 gene within the critical region of 4q identified for a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism in a consanguineous Saudi family, Alazami et al. (2012) identified a homozygous 7-bp duplication in ...