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Midline interhemispheric variant of holoprosencephaly

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Name:
Midline interhemispheric variant of holoprosencephaly
Description:
Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter.
ORPHAcode:
93926
Synonyms:
MIH
MIH type HPE
MIHF
MIHV
Middle interhemispheric fusion variant
Middle interhemispheric variant of holoprosencephaly
Syntelencephaly
XREF(s):
Orphanet
OMIM
OMIM
OMIM
ICD-10
Analyte(s):
STIL
PTCH1
SHH
SIX3
TGIF1
ZIC2
GLI2
CRIPTO
FOXH1
FGF8
DISP1
CDON
NODAL
DLL1
GAS1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Hypogonadotropic Hypogonadism/Kallmann (61 genes) - ULG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    LEPR 98.65 0 NM_002303
    KISS1 99.66 0 NM_002256
    RD3 99.63 0 NM_183059
    HS6ST1 92.39 0 NM_004807
    CXCR4 99.63 0 NM_003467
    CCDC141 97.45 0 NM_173648
    NRP2 99.58 0 NM_201266
    IL17RD 94.68 0 NM_017563
    HESX1 98.36 0 NM_003865
    PROK2 90.75 0 NM_001126128
    GAP43 97.81 0 NM_001130064
    PLXNA1 99.67 0 NM_032242
    SOX2 95.94 0 NM_003106
    KLB 99.62 0 NM_175737
    GNRHR 99.45 0 NM_000406
    TACR3 99.41 0 NM_001059
    OTUD4 98.02 0 NM_001102653
    PCSK1 99.63 0 NM_000439
    SOX9 99.60 0 NM_001035235
    SPRY4 99.69 0 NM_030964
    PROP1 99.69 0 NM_006261
    GLI3 99.55 0 NM_000168
    SEMA3E 99.45 0 NM_012431
    SEMA3A 99.53 0 NM_006080
    FEZF1 99.43 0 NM_001024613
    LEP 99.69 0 NM_000230
    FGF17 99.67 0 NM_003867
    GNRH1 99.54 0 NM_000825
    FGFR1 99.69 0 NM_023110
    CHD7 99.53 0 NM_017780
    TRAPPC9 99.57 0 NM_031466
    PALM2 98.64 0 NM_001037293
    NOTCH1 96.74 0 NM_017617
    NSMF 93.42 0 NM_015537
    MASTL 99.20 0 NM_032844
    FGF8 78.88 0 NM_033163
    WDR11 99.33 0 NM_018117
    CCKBR 99.61 0 NM_176875
    FSHB 99.64 0 NM_000510
    PLEKHA5 98.89 0 NM_001143821
    PDE3A 99.05 0 NM_000921
    TSPAN11 99.69 0 NM_001080509
    AMN1 99.52 0 NM_001113402
    TAC3 99.64 0 NM_013251
    DUSP6 99.68 0 NM_001946
    POLR3B 99.29 0 NM_018082
    CRY1 99.26 0 NM_004075
    NOS1 99.42 0 NM_000620
    SEMA7A 92.63 0 NM_003612
    DCC 99.55 0 NM_005215
    KISS1R 85.01 0 NM_032551
    AXL 99.69 0 NM_021913
    LHB 99.69 0 NM_000894
    PROKR2 99.69 0 NM_144773
    JAG1 97.49 0 NM_000214
    FLRT3 99.67 0 NM_198391
    SOX10 93.26 0 NM_006941
    ANOS1 93.11 0 NM_000216
    NR0B1 99.34 0 NM_000475
    FGF13 99.32 0 NM_004114
    SOX3 83.29 0 NM_005634