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#620430 - AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3; ADMIO3
Cytogenetic locations: -
Gene summaries Genetic tests Medical literature
#620276 - OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 14; OZEMA14
#620270 - NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES; NEDSMB
Cytogenetic locations: #t8###
#620145 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109; DEE109
Cytogenetic locations: C2
#620071 - BIRK-AHARONI SYNDROME; BKAH
Cytogenetic locations: #1q}##
*620051 - RING FINGER PROTEIN 41, E3 UBIQUITIN PROTEIN LIGASE; RNF41
#620038 - NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE; NEDMHAL
#620012 - DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE; DEDHIL
*619936 - ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 17; ASB17
*619893 - KELCH-LIKE FAMILY, MEMBER 25; KLHL25
Cytogenetic locations: p#P###
*619757 - ANKYRIN REPEAT- AND SOCS BOX-CONTAINING PROTEIN 15; ASB15
*619756 - UBIQUITIN-CONJUGATING ENZYME E2 J2; UBE2J2
Cytogenetic locations: 1p36.33
#619699 - FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
Cytogenetic locations: 619925
#619688 - LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23
Cytogenetic locations: 604013
*619675 - U-BOX DOMAIN-CONTAINING PROTEIN 5; UBOX5
Cytogenetic locations: functional
#619639 - NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS
Cytogenetic locations: p"####
*619535 - RING FINGER PROTEIN 115; RNF115
Cytogenetic locations: 610414
#619422 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31
#619375 - AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD
Cytogenetic locations: 16p13.3
#619354 - DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
Cytogenetic locations: assignment
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