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#617391 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54; DEE54
Cytogenetic locations: 22581936
Gene summaries Genetic tests Medical literature
#615369 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94; DEE94
Cytogenetic locations: Stra6
#614558 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13; DEE13
Cytogenetic locations: 22365152
#613443 - NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE; NEDHSIL
CHROMOSOME 5q14.3 DELETION SYNDROME, PROXIMAL, INCLUDED
Cytogenetic locations: 20513142
#612621 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 5; MRD5
Cytogenetic locations: 26989088
*611472 - METHYL-CpG-BINDING DOMAIN PROTEIN 5; MBD5
Cytogenetic locations: 17847001
#607681 - FEBRILE SEIZURES, FAMILIAL, 8; FEB8
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2, INCLUDED; ECA2, INCLUDED
Cytogenetic locations: 11326275
*603384 - SYNAPTIC RAS-GTPase-ACTIVATING PROTEIN 1; SYNGAP1
Cytogenetic locations: 15014045
*602869 - HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN U; HNRNPU
Cytogenetic locations: 19477957
*602119 - CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 2; CHD2
Cytogenetic locations: 29326634
*600702 - SODIUM VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT 8; SCN8A
Cytogenetic locations: -
#156200 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1; MRD1
CHROMOSOME 2q23.1 DELETION SYNDROME, INCLUDED
Cytogenetic locations: 613449
*137164 - GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-2; GABRG2
Cytogenetic locations: 11321425
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