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#620728 - ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C; UCMD1C
Gene summaries Genetic tests Medical literature
#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
#620654 - THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES; THC11
#620540 - DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY; DEVEP
Cytogenetic locations: q#m##
#620538 - SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA; SPG91
#620536 - ALPORT SYNDROME 3B, AUTOSOMAL RECESSIVE; ATS3B
Cytogenetic locations: ###x##
#620528 - NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11; HMND11
Cytogenetic locations: p##;##
#620320 - HEMATURIA, BENIGN FAMILIAL, 2; BFH2
Cytogenetic locations: @!####
#620246 - CONGENITAL MYOPATHY 18; CMYP18
#620193 - LACRIMOAURICULODENTODIGITAL SYNDROME 3; LADD3
Cytogenetic locations: 617233
#620192 - LACRIMOAURICULODENTODIGITAL SYNDROME 2; LADD2
#620114 - NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES; NEDSIS
Cytogenetic locations: #(G###
#620071 - BIRK-AHARONI SYNDROME; BKAH
Cytogenetic locations: #1q}##
#620038 - NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE; NEDMHAL
#620029 - NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES; NEDHLSS
Cytogenetic locations: 605170
#620022 - STICKLER SYNDROME, TYPE VI; STL6
Cytogenetic locations: ######
#620019 - ARTHROGRYPOSIS, DISTAL, TYPE 11; DA11
Cytogenetic locations: #n{###
#619947 - WAARDENBURG SYNDROME, TYPE 2F; WS2F
Cytogenetic locations: 0,#_##
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