FRAXE intellectual deficit

General Information (adopted from Orphanet):

Synonyms, Signs: FRAXE MENTAL RETARDATION SYNDROME
Intellectual deficit associated with fragile site FRAXE
Number of Symptoms 18
OrphanetNr: 100973
OMIM Id: 309548
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset:

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:0000286) Epicanthus 371 / 7739
2
(HPO:0000426) Prominent nasal bridge 121 / 7739
3
(HPO:0000713) Agitation 18 / 7739
4
(HPO:0000750) Delayed speech and language development 197 / 7739
5
(HPO:0001249) Intellectual disability 1089 / 7739
6
(HPO:0000718) Aggressive behavior 109 / 7739
7
(HPO:0100710) Impulsivity 16 / 7739
8
(HPO:0000752) Hyperactivity 140 / 7739
9
(HPO:0000722) Obsessive-compulsive behavior 35 / 7739
10
(HPO:0001328) Specific learning disability 114 / 7739
11
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
12
(MedDRA:10071232) Protuberant ear 3 / 7739
13
(OMIM) Hand-flapping 1 / 7739
14
(HPO:0001419) X-linked recessive inheritance 189 / 7739
15
(OMIM) [DEL]Autistic features 43 / 7739
16
(OMIM) Mental retardation, mild to moderate 33 / 7739
17
(OMIM) Subtle dysmorphic features may be present 1 / 7739
18
(OMIM) Communication defects 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) FRAXE mental retardation is a form of mild to moderate mental retardation associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior (summary by Bensaid et al., 2009). FRAXE is associated with a fragile site on ...
Clinical Description OMIM Knight et al. (1996) provided clinical details of 1 FRAXE male identified through a screening study as well as 3 other FRAXE individuals identified through previous referrals for fragile X syndrome testing. The first male had shown developmental ...
Molecular genetics OMIM - Fragile Site FRAXE

Sutherland and Baker (1992) thought the fragile site FRAXE was not associated with mental retardation. However, several families originally described as having the fragile X syndrome on the basis of mental impairment ...