Fried syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MRXS21
MENTAL RETARDATION, X-LINKED 59
MENTAL RETARDATION, X-LINKED, SYNDROMIC 21
MRX59
MRXSF
Number of Symptoms 18
OrphanetNr: 85335
OMIM Id: 300630
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 family [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:0000276) Long face Occasional [Orphanet] 109 / 7739
2
 (HPO:0000322) Short philtrum Frequent [Orphanet] 130 / 7739
3
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
4
 (HPO:0000598) Abnormality of the ear Occasional [Orphanet] 98 / 7739
5
 (HPO:0001288) Gait disturbance Frequent [Orphanet] 318 / 7739
6
 (HPO:0000708) Behavioral abnormality Frequent [Orphanet] 212 / 7739
7
 (HPO:0004374) Hemiplegia/hemiparesis Very frequent [Orphanet] 158 / 7739
8
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
9
 (HPO:0002514) Cerebral calcification Very frequent [Orphanet] 89 / 7739
10
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
11
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
12
 (HPO:0011001) Increased bone mineral density Occasional [Orphanet] 78 / 7739
13
 (HPO:0004326) Cachexia Occasional [Orphanet] 71 / 7739
14
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
15
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
16
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
17
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
18
 (HPO:0000238) Hydrocephalus Very frequent [Orphanet] 278 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Fried (1972) reported a Scottish pedigree with X-linked mental retardation, in which some affected members had hydrocephalus; the disorder appeared to be linked to the blood group locus Xg with a most likely recombination fraction of 0.11 (Fried ...
Molecular genetics OMIM In a systematic sequencing screen of the coding exons of the X chromosome in 250 families with X-linked mental retardation (XLMR), Tarpey et al. (2006) identified 2 nonsense mutations and 1 consensus splice site mutation in the AP1S2 ...