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#619911 - INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM; IDLDP
Cytogenetic locations: a####
Gene summaries Genetic tests Medical literature
#618901 - 46,XX SEX REVERSAL 5; SRXX5
Cytogenetic locations: ##XR##
#618187 - OVARIAN DYSGENESIS 8; ODG8
Cytogenetic locations: 616510
#618060 - INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA
#617654 - DEAFNESS, AUTOSOMAL RECESSIVE 108; DFNB108
#617480 - 46,XX SEX REVERSAL 4; SRXX4
Cytogenetic locations: {Asthma-related
#616622 - IMMUNODEFICIENCY 42; IMD42
Cytogenetic locations: -
#616026 - FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG; FRTS4
#615962 - GLUCOCORTICOID RESISTANCE, GENERALIZED; GCCR
#615779 - CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4; CHTD4
Cytogenetic locations: P#vE##
#615722 - BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME; BBSOAS
#615524 - MICROPHTHALMIA, SYNDROMIC 12; MCOPS12
Cytogenetic locations: Plcl2
#615363 - ESTROGEN RESISTANCE; ESTRR
#614450 - HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6
Cytogenetic locations: 601574
#613957 - SPERMATOGENIC FAILURE 8; SPGF8
#612965 - 46,XY SEX REVERSAL 3; SRXY3
#612964 - PREMATURE OVARIAN FAILURE 7; POF7
ADRENAL INSUFFICIENCY, NR5A1-RELATED, INCLUDED
#612376 - ACUTE PROMYELOCYTIC LEUKEMIA; APL
Cytogenetic locations: 1p36, 1p36
#609338 - CAROTID INTIMAL MEDIAL THICKNESS 1
#608565 - DEAFNESS, AUTOSOMAL RECESSIVE 35; DFNB35
Cytogenetic locations: @0YG##
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