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#620654 - THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES; THC11
Gene summaries Genetic tests Medical literature
#620540 - DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY; DEVEP
Cytogenetic locations: q#m##
#620538 - SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA; SPG91
#620528 - NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11; HMND11
Cytogenetic locations: p##;##
#620514 - IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION; IDAA
Cytogenetic locations: `#####
#620292 - NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES; NEDLBAS
Cytogenetic locations: p#####
#620193 - LACRIMOAURICULODENTODIGITAL SYNDROME 3; LADD3
Cytogenetic locations: 617233
#620192 - LACRIMOAURICULODENTODIGITAL SYNDROME 2; LADD2
#620111 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J; CMT1J
Cytogenetic locations: #5#@##
#620071 - BIRK-AHARONI SYNDROME; BKAH
Cytogenetic locations: #1q}##
#620038 - NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE; NEDMHAL
#620019 - ARTHROGRYPOSIS, DISTAL, TYPE 11; DA11
Cytogenetic locations: #n{###
#619947 - WAARDENBURG SYNDROME, TYPE 2F; WS2F
Cytogenetic locations: 0,#_##
#619887 - RENAL HYPODYSPLASIA/APLASIA 4; RHDA4
Cytogenetic locations: 612333
#619814 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101
Cytogenetic locations: #>####
#619745 - NOONAN SYNDROME 14; NS14
#619680 - MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS
Cytogenetic locations: p#N###
#619651 - NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD
Cytogenetic locations: 601199
#619647 - DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR
#619538 - CEREBRAL CAVERNOUS MALFORMATIONS 4; CCM4
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