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#621063 - MUGGENTHALER-CHOWDHURY-CHIOZA SYNDROME; MCCS
Gene summaries Genetic tests Medical literature
#620194 - NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES; NEDGEF
Cytogenetic locations: 26633546
#618853 - ANAUXETIC DYSPLASIA 3; ANXD3
#618142 - MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME; MFRG
*617835 - PYRUVATE DEHYDROGENASE PHOSPHATASE REGULATORY SUBUNIT; PDPR
Cytogenetic locations: 12056414
*617103 - ZINC FINGER PROTEIN 668; ZNF668
*617089 - NUCLEOLUS AND NEURAL PROGENITOR PROTEIN; NEPRO
*617057 - CYTOSOLIC THIOURIDYLASE, SUBUNIT 2; CTU2
#617025 - NEVUS COMEDONICUS; NC
Cytogenetic locations: 23888253
#617022 - LETHAL CONGENITAL CONTRACTURE SYNDROME 10; LCCS10
Cytogenetic locations: 26908619
*616618 - ACYL-CoA-BINDING DOMAIN-CONTAINING PROTEIN 5; ACBD5
Cytogenetic locations: 611846
#616192 - ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS; ACPHD
Cytogenetic locations: 607111
#614262 - ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY; APUG
*614248 - PEAK FAMILY MEMBER 1; PEAK1
Cytogenetic locations: 20534451
*613401 - VPS33B-INTERACTING PROTEIN, APICAL-BASOLATERAL POLARITY REGULATOR, SPE39 HOMOLOG; VIPAS39
Cytogenetic locations: 19109425
*612790 - RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 28; ARHGEF28
Cytogenetic locations: Il31ra
*611692 - ZINC FINGER- AND BTB DOMAIN-CONTAINING PROTEIN 34; ZBTB34
Cytogenetic locations: 600046
*609798 - NIMA-RELATED KINASE 9; NEK9
Cytogenetic locations: 14660563
*609797 - BICD CARGO ADAPTOR 2; BICD2
Cytogenetic locations: 27784775
*609022 - RAPAMYCIN-INSENSITIVE COMPANION OF MTOR; RICTOR
Cytogenetic locations: 24662050
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