1. Diseases
  2. FRAXE intellectual disability

FRAXE intellectual disability

Disease Export to PDF
Name:
FRAXE intellectual disability
Description:
A rare X-linked syndromic intellectual disability characterized by a variable clinical picture including developmental delay, mild to moderate intellectual disability, learning difficulties, communication deficits, and behavioral problems (such as aggression, attention deficit, hyperactivity, and autistic features). Personality disorder and psychotic behavior have also been reported.
ORPHAcode:
100973
Synonyms:
Intellectual disability associated with fragile site FRAXE
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
AFF2
FMR3
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Premature Ovarian Failure/Insufficiency (32 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AFF2 100.00 0
    AMH 75.52 0
    AMHR2 100.00 0
    BMP15 100.00 0
    DACH2 99.75 0
    DAZL 100.00 0
    DIAPH2 100.00 0
    DMC1 100.00 0
    ESR1 99.95 0
    FIGLA 98.07 0
    FMR1 100.00 0
    FOXL2 85.42 0
    FOXO1 86.72 0
    FOXO3 99.72 0
    FSHR 100.00 0
    GDF9 100.00 0
    GPR3 100.00 0
    HFM1 100.00 0
    INHA 100.00 0
    LHCGR 99.37 0
    MCM8 97.95 0
    MSH5 99.82 -2
    NOBOX 100.00 0
    NR5A1 100.00 0
    PATL2 100.00 0
    PGRMC1 100.00 0
    POF1B 100.00 0
    SOHLH1 100.00 0
    SOHLH2 96.06 0
    STAG3 99.70 0
    TGFBR3 100.00 0
    XPNPEP2 100.00 0