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#620731 - MICROPHTHALMIA/COLOBOMA 11; MCOPCB11
Gene summaries Genetic tests Medical literature
#620514 - IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION; IDAA
Cytogenetic locations: `#####
#620475 - THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY; THC8
Cytogenetic locations: ##H###
#620430 - AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3; ADMIO3
Cytogenetic locations: -
#620111 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J; CMT1J
Cytogenetic locations: #5#@##
#620019 - ARTHROGRYPOSIS, DISTAL, TYPE 11; DA11
Cytogenetic locations: #n{###
#619908 - NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES; NEDLDS
#619657 - CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8
Cytogenetic locations: pb#x##
#619656 - LOEYS-DIETZ SYNDROME 6; LDS6
Cytogenetic locations: 0^#d##
#619538 - CEREBRAL CAVERNOUS MALFORMATIONS 4; CCM4
#619465 - VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN2
Cytogenetic locations: ######
#619281 - IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B
Cytogenetic locations: 1p36.22
#619271 - BLEEDING DISORDER, PLATELET-TYPE, 24; BDPLT24
Cytogenetic locations: between
#619267 - GLANZMANN THROMBASTHENIA 2; GT2
#619143 - CARDIOACROFACIAL DYSPLASIA 2; CAFD2
#619142 - CARDIOACROFACIAL DYSPLASIA 1; CAFD1
Cytogenetic locations: PwU###
#619087 - NOONAN SYNDROME 13; NS13
Cytogenetic locations: 0#{}##
#618820 - GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
Cytogenetic locations: p#9###
#618727 - ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB
Cytogenetic locations: #6####
#618681 - LESSEL-KUBISCH SYNDROME; LSKB
Cytogenetic locations: #d####
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