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#620186 - BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME; BCAHH
Cytogenetic locations: #3t|##
Gene summaries Genetic tests Medical literature
*620008 - H2A.Z VARIANT HISTONE 2; H2AZ2
Cytogenetic locations: Psma2
#619951 - TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4; TEBIVANED4
Cytogenetic locations: 602811
#619950 - TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3; TEBIVANED3
#619759 - TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEBIVANED2
#619758 - TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEBIVANED1
#619721 - BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
Cytogenetic locations: P3:###
#619720 - BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
Cytogenetic locations: 609061
#618786 - IMAGAWA-MATSUMOTO SYNDROME; IMMAS
Cytogenetic locations: 17p11.2
#618603 - NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
#618371 - TURNPENNY-FRY SYNDROME; TPFS
Cytogenetic locations: #Uaz##
#618333 - MENKE-HENNEKAM SYNDROME 2; MKHK2
Cytogenetic locations: P#####
#618332 - MENKE-HENNEKAM SYNDROME 1; MKHK1
#617768 - KLEEFSTRA SYNDROME 2; KLEFS2
Cytogenetic locations: #####
#617641 - CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED
#617561 - COHEN-GIBSON SYNDROME; COGIS
Cytogenetic locations: processed
#617557 - GABRIELE-DE VRIES SYNDROME; GADEVS
#617041 - DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS; DURS3
Cytogenetic locations: Ttll9
#615524 - MICROPHTHALMIA, SYNDROMIC 12; MCOPS12
Cytogenetic locations: Plcl2
#615502 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 21; MRD21
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