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#620784 - NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY; NEDOA
Gene summaries Genetic tests Medical literature
#620783 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115; DEE115
#620782 - NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER; NEDLAAD
*620778 - KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR, THREE DOMAINS, SHORT CYTOPLASMIC TAIL, 1; KIR3DS1
#620777 - PULMONARY HYPERTENSION, PRIMARY, 6; PPH6
#620775 - NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES; NMDF
#620774 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114; DEE114
#620772 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113; DEE113
#620763 - CORNEAL DYSTROPHY, LISCH EPITHELIAL; LECD
#620755 - GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12; GEFSP12
#620746 - NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES; NEDHBA
#620745 - DEAFNESS, AUTOSOMAL RECESSIVE 123; DFNB123
#620734 - CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 30, ATRIAL; CMH30
#620732 - NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES; NEDMSB
#620731 - MICROPHTHALMIA/COLOBOMA 11; MCOPCB11
#620729 - HYPERFERRITINEMIA; HRFT
#620728 - ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C; UCMD1C
#620727 - ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B; UCMD1B
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B, DIGENIC, INCLUDED; UCMD1A/1B, DIGENIC, INCLUDED
#620726 - BETHLEM MYOPATHY 1C; BTHLM1C
#620725 - BETHLEM MYOPATHY 1B; BTHLM1B
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