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218670 - CRANIOTELENCEPHALIC DYSPLASIA
Gene summaries Genetic tests Medical literature
234250 - HALL-RIGGS SYNDROME
#182230 - SEPTOOPTIC DYSPLASIA
PITUITARY HORMONE DEFICIENCY, COMBINED, 5, INCLUDED; CPHD5, INCLUDED
Cytogenetic locations: 18929724
%601357 - BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY; ACLH
#616994 - CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2; CFSMR2
Cytogenetic locations: EBF4
#620609 - LONG-OLSEN-DISTELMAIER SYNDROME; LNGODS
#615476 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18; DEE18
Cytogenetic locations: 1p34.2
#620359 - MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 7; MC5DN7
Cytogenetic locations: 34954817
#619383 - NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
Cytogenetic locations: 29808498
#618929 - AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
Cytogenetic locations: 602770
#213980 - CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1; CFSMR1
Cytogenetic locations: 30556256
#218340 - TEMTAMY SYNDROME; TEMTYS
Cytogenetic locations: -
#300868 - MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2; MCAHS2
Cytogenetic locations: 21507589
#101200 - APERT SYNDROME
APERT-CROUZON DISEASE, INCLUDED
#300853 - IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN
Cytogenetic locations: 31714901
#309801 - LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1; LSDMCA1
#602501 - MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME; MCAP
#616260 - TENORIO SYNDROME; TNORS
Cytogenetic locations: 17q25.3
#618820 - GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
Cytogenetic locations: 31883643
#609053 - FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI
Cytogenetic locations: 17412408
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