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#620712 - POLYDACTYLY-MACROCEPHALY SYNDROME; PDMCS
Gene summaries Genetic tests Medical literature
#620654 - THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES; THC11
*620649 - PHOSPHOLIPASE A2, GROUP IVE; PLA2G4E
#620449 - IMMUNODEFICIENCY 112; IMD112
Cytogenetic locations: #####
#620383 - OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 20; OZEMA20
Cytogenetic locations: @z####
#620246 - CONGENITAL MYOPATHY 18; CMYP18
#620193 - LACRIMOAURICULODENTODIGITAL SYNDROME 3; LADD3
Cytogenetic locations: 617233
#620192 - LACRIMOAURICULODENTODIGITAL SYNDROME 2; LADD2
#620174 - SPINOCEREBELLAR ATAXIA 27B, LATE-ONSET; SCA27B
#620149 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110; DEE110
Cytogenetic locations: 0#####
#620114 - NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES; NEDSIS
Cytogenetic locations: #(G###
#620029 - NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES; NEDHLSS
Cytogenetic locations: 605170
#619869 - NEUROCARDIOFACIODIGITAL SYNDROME; NCFD
Cytogenetic locations: 608130
#619575 - DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
Cytogenetic locations: ##k###
#619339 - BARTSOCAS-PAPAS SYNDROME 2; BPS2
Cytogenetic locations: 138250
#619143 - CARDIOACROFACIAL DYSPLASIA 2; CAFD2
Cytogenetic locations: `#####
#619142 - CARDIOACROFACIAL DYSPLASIA 1; CAFD1
Cytogenetic locations: PwU###
#619087 - NOONAN SYNDROME 13; NS13
Cytogenetic locations: 0#{}##
#618987 - IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C
Cytogenetic locations: HCHGQ3
#618986 - IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B
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