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#620653 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY; MRT80
Gene summaries Genetic tests Medical literature
#620568 - CORNELIA DE LANGE SYNDROME 6; CDLS6
#620537 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112; DEE112
Cytogenetic locations: 14q22.1
*620509 - CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 11; CNOT11
Cytogenetic locations: Tsga10
*620508 - CCR4-NOT TRANSCRIPTION COMPLEX, SUBUNIT 10; CNOT10
Cytogenetic locations: 615166
#620469 - CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY; CCDDRD
#620393 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79; MRT79
Cytogenetic locations: @#####
#620311 - PREMATURE OVARIAN FAILURE 21; POF21
Cytogenetic locations: P4#B##
#620276 - OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 14; OZEMA14
#620210 - NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA; NEDFIH
Cytogenetic locations: ###[##
#620193 - LACRIMOAURICULODENTODIGITAL SYNDROME 3; LADD3
Cytogenetic locations: 0##/##
#620189 - MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION; MVA7
Cytogenetic locations: 606582
#620185 - ATELIS SYNDROME 2; ATELS2
Cytogenetic locations: 0#####
#620183 - MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE; MCPH30
Cytogenetic locations: {Encephalopathy
#620154 - OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 13; OZEMA13
Cytogenetic locations: `#z<##
#620145 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109; DEE109
Cytogenetic locations: 600693
#620071 - BIRK-AHARONI SYNDROME; BKAH
*620061 - CDK2-ASSOCIATED PROTEIN 2; CDK2AP2
Cytogenetic locations: mutation
#620038 - NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE; NEDMHAL
Cytogenetic locations: Pacrg
#619827 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
Cytogenetic locations: GINGF4
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