- Diseases
- Autosomal recessive primary microcephaly
Autosomal recessive primary microcephaly
Name: |
Autosomal recessive primary microcephaly
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Description: |
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.
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ORPHAcode: |
2512
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Synonyms: |
MCPH
Microcephalia vera
Microcephaly vera
True microcephaly
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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Brain malformations (34 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ASPM 98.88 0 CCDC88C 100.00 0 CDK5RAP2 99.64 0 CDON 100.00 0 CENPJ 100.00 0 CEP135 100.00 0 CEP152 99.96 0 DISP1 100.00 0 DLL1 100.00 0 FGF8 99.79 0 FGFR1 94.19 0 FOXH1 100.00 0 GAS1 100.00 0 GCM2 78.95 0 GLI2 100.00 0 L1CAM 96.28 0 MCPH1 99.98 0 MPDZ 99.70 0 NODAL 100.00 0 SLC25A15 99.87 0 ORC4 100.00 0 ORC6 100.00 0 PCNT 100.00 0 PTCH1 99.88 0 SHH 98.82 0 SIX3 99.47 0 SMAD2 99.61 0 STIL 100.00 0 SUFU 100.00 0 CRIPTO 100.00 0 TGIF1 100.00 0 TRMT10A 100.00 0 WDR62 100.00 0 ZIC2 100.00 0 -
Growth retardation/short stature (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACAN 98.48 1 ALPL 99.97 1 ANKRD11 100.00 1 ARCN1 99.91 1 ARID1A 98.84 1 ARID1B 97.80 1 ARID2 99.96 1 BMP2 99.97 1 BRAF 98.17 1 BTK 99.34 1 CBL 99.89 1 CCDC8 100.00 1 CDC45 100.00 1 CDC6 99.94 1 CDKN1C 97.19 1 CDT1 94.33 1 CREBBP 99.91 1 CUL7 100.00 1 DHCR7 100.00 1 DVL1 100.00 1 EP300 99.96 1 FGD1 98.85 1 FGFR3 99.67 1 FLNA 99.89 1 GH1 100.00 1 GHR 99.78 1 GHRHR 99.79 1 GHSR 99.99 1 GMNN 99.70 1 HESX1 99.81 1 HMGA2 72.70 1 HRAS 100.00 1 IGF1 99.96 1 IGF1R 99.98 1 IGF2 100.00 1 IGFALS 100.00 1 IHH 99.93 1 KDM6A 98.95 1 KMT2A 99.18 1 KMT2D 99.98 1 KRAS 99.92 1 LZTR1 99.99 1 MAP2K1 99.98 1 MAP2K2 99.99 1 MAPK1 99.56 1 MRAS 100.00 1 NBAS 99.97 1 NPR2 99.97 1 NRAS 99.45 1 OBSL1 99.32 1 ORC1 99.96 1 ORC4 99.90 1 ORC6 99.91 1 PAPPA2 99.91 1 PIK3R1 99.80 1 PLAG1 99.90 1 POC1A 99.98 1 POU1F1 99.92 1 PPP1CB 99.99 1 PTPN11 99.91 1 RAF1 99.96 1 RASA2 99.59 1 RIT1 99.96 1 RNPC3 99.76 1 ROR2 99.24 1 RRAS2 99.60 1 SHOC2 99.81 1 SHOX 94.81 1 SMARCA4 99.98 1 SMARCB1 100.00 1 SOS1 99.81 1 SOS2 99.70 1 SOX3 97.93 1 SPRED2 99.96 1 SRCAP 99.97 1 STAT5B 99.94 1 TOP3A 99.95 1 TRIM37 99.81 1 WNT5A 99.96 1 YY1 99.63 1