Intellectual deficit, X-linked, Shrimpton type

General Information (adopted from Orphanet):

Synonyms, Signs: MRXS9
Number of Symptoms 4
OrphanetNr: 85324
OMIM Id: 300709
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
2
 (HPO:0001249) Intellectual disability 1089 / 7739
3
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
4
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Shrimpton et al. (1999) reported a large 3-generation family in which 11 males had severe mental retardation associated with microcephaly and variable short stature. Speech was severely delayed. Testicular size was normal.