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表2 1 096例ID/GDD患儿中前25位常见的变异基因及关联表型
Table 2 Top 25 monogenic variations and associated phenotypes in 1096 children with ID/GDD
Number Inheritance
Gene Related diseases OMIM
of cases pattern
MECP2 12 Rett syndrome；RTT 312750 XD
Encephalopathy，neonatal severe，due to mecp2 mutations 300673 XR
Intellectual developmental disorder，X⁃linked，syndromic 13；MRXS13 300055 XR
Intellectual developmental disorder，X⁃linked，syndromic，Lubs type；MRXSL 300260 XR
Autism，susceptibility to，X⁃linked 3；AUTSX3 300496 X⁃linked
SYNGAP1 6 Intellectual developmental disorder，autosomal dominant 5；MRD5 612621 AD
DDX3X 5 Intellectual developmental disorder，X⁃linked，syndromic，Snijders Blok type；MRXSSB 300958 XD，XR
TCF4 5 Pitt⁃Hopkins syndrome；PTHS 610954 AD
Corneal dystrophy，Fuchs endothelial，3；FECD3 613267 AD
CREBBP 4 Rubinstein⁃Taybi syndrome 1；RSTS1 180849 AD
Menke⁃Hennekam syndrome 1；MKHK1 618332 AD
CTNNB1 4 Neurodevelopmental disorder with spastic diplegia and visual defects；NEDSDV 615075 AD
Exudative vitreoretinopathy 7；EVR7 617572 AD
GRIN2B 4 Intellectual developmental disorder，autosomal dominant 6，with or without seizures； 613970 AD
MRD6
Developmental and epileptic encephalopathy 27；DEE27 616139 AD
KAT6A 4 Arboleda⁃Tham syndrome；ARTHS 616268 AD
KDM5C 4 Intellectual developmental disorder，X⁃linked，syndromic，Claes⁃Jensen type；MRXSCJ 300534 XR
NF1 4 Neurofibromatosis，type Ⅰ；NF1 162200 AD
Neurofibromatosis，familial spinal 162210 AD
Watson syndrome；WTSN 193520 AD
Neurofibromatosis⁃Noonan syndrome；NFNS 601321 AD
Juvenile myelomonocytic leukemia；JMML 607785 AD，SMu
NSD1 4 Sotos syndrome；SOTOS 117550 AD
ZEB2 4 Mowat⁃Wilson syndrome；MOWS 235730 AD
CASK 3 FG syndrome 4；FGS4 300422 XR
Intellectual developmental disorder with microcephaly and pontine and cerebellar hypo⁃ 300749 X⁃linked
plasia；MICPCH
CDK13 3 Congenital heart defects，dysmorphic facial features，and intellectual developmental dis⁃ 617360 AD
order；CHDFIDD
DYNC1H1 3 Spinal muscular atrophy，lower extremity ⁃ predominant，1，autosomal dominant； 158600 AD
SMALED1
Charcot⁃Marie⁃Tooth disease，axonal，type 2O；CMT2O 614228 AD
Cortical dysplasia，complex，with other brain malformations 13；CDCBM13 614563 AD
FOXP1 3 Intellectual developmental disorder with language impairment and with or without autis⁃ 613670 AD
tic features；IDDLA
HNRNPU 3 Developmental and epileptic encephalopathy 54；DEE54 617391 AD
IQSEC2 3 Intellectual developmental disorder，X⁃linked 1；XLID1 309530 XD
KMT2D 3 Kabuki syndrome 1；KABUK1 147920 AD
Branchial arch abnormalities，choanal atresia，athelia，hearing loss，and hypothyroidism 620186 AD
syndrome；BCAHH
MED13L 3 Impaired intellectual development and distinctive facial features with or without cardiac 616789 AD
defects；MRFACD