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Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

Disease Export to PDF
Name:
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
Description:
A rare, syndromic intellectual disability characterized by hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder. Associated ophthalmologic, heart, skeletal and central nervous system anomalies have been reported.
ORPHAcode:
457279
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
PPP2R5D
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Overgrowth (24 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADARB2 100.00 1 NM_018702.4
    AKT1 100.00 1 NM_001014431.2
    AKT3 100.00 1 NM_005465.7
    BRWD3 100.00 1 NM_153252.5
    CDKN1C 100.00 1 NM_001362474.2
    CHD3 100.00 1 NM_001005273.3
    CHD8 100.00 1 NM_001170629.2
    DIS3L2 100.00 1 NM_152383.4
    DNMT3A 100.00 1 NM_175629.2
    EED 100.00 1 NM_003797.5
    EZH2 100.00 1 NM_004456.5
    GPC3 100.00 1 NM_001164617.2
    H1-4 100.00 1 NM_005321.3
    KMT5B 100.00 1 NM_017635.5
    MTOR 100.00 1 NM_004958.4
    NFIX 100.00 1 NM_002501.4
    NSD1 100.00 1 NM_022455.4
    PDGFRB 100.00 1 NM_002609.4
    PIK3CA 100.00 1 NM_006218.4
    PPP2R5C 100.00 1 NM_001161725.1
    PPP2R5D 100.00 1 NM_006245.4
    PTEN 100.00 1 NM_000314.8
    SETD2 100.00 1 NM_014159.6
    TCF20 100.00 1 NM_005650.3