Intellectual deficit, X-linked, Shashi type

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION, X-LINKED, SHASHI TYPE
MRXS11
SHASHI X-LINKED MENTAL RETARDATION SYNDROME
SMRXS
Syndromic X-linked intellectual deficit type 11
Number of Symptoms 19
OrphanetNr: 85286
OMIM Id: 300238
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 9 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000053) Macroorchidism Very frequent [Orphanet] 18 / 7739
2
 (HPO:0000159) Abnormality of the lip Very frequent [Orphanet] 33 / 7739
3
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
4
 (HPO:0100540) Palpebral edema Very frequent [Orphanet] 31 / 7739
5
 (HPO:0000629) Periorbital fullness 13 / 7739
6
 (HPO:0000414) Bulbous nose 63 / 7739
7
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
8
 (HPO:0000336) Prominent supraorbital ridges Very frequent [Orphanet] 45 / 7739
9
 (HPO:0000581) Blepharophimosis Very frequent [Orphanet] 197 / 7739
10
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
11
 (HPO:0000400) Macrotia 108 / 7739
12
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
13
 (HPO:0002342) Intellectual disability, moderate 37 / 7739
14
 (HPO:0001328) Specific learning disability 114 / 7739
15
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
16
 (HPO:0001513) Obesity Very frequent [Orphanet] 172 / 7739
17
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
18
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
19
 (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 In a large family from North Carolina, Shashi et al. (2000) studied a seemingly novel X-linked mental retardation syndrome with characteristic facial dysmorphic features. Only males were affected over 4 generations. Clinical findings in the 7 living affected ...