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603572 - MICROCEPHALY, FACIAL ABNORMALITIES, MICROMELIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT
Gene summaries Genetic tests Medical literature
#251230 - MICROCEPHALY-MICROMELIA SYNDROME; MIMIS
Cytogenetic locations: -
601561 - DYSSEGMENTAL DYSPLASIA WITH GLAUCOMA
273680 - THANATOPHORIC DYSPLASIA, GLASGOW VARIANT
*611428 - DOWNSTREAM NEIGHBOR OF SON; DONSON
Cytogenetic locations: 10950926
156830 - MICROMELIC BONE DYSPLASIA WITH CLOVERLEAF SKULL
%250215 - METAPHYSEAL ACROSCYPHODYSPLASIA
#618845 - VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
Cytogenetic locations: 31883644
#600092 - NIVELON-NIVELON-MABILLE SYNDROME; NNMS
Cytogenetic locations: Cr2
200995 - ACROCEPHALOPOLYDACTYLOUS DYSPLASIA
#617866 - SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18
Cytogenetic locations: 24183451
#600972 - ACHONDROGENESIS, TYPE IB; ACG1B
#200600 - ACHONDROGENESIS, TYPE IA; ACG1A
Cytogenetic locations: Rdh11
#614091 - SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7
SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC, INCLUDED; SRTD7/20, INCLUDED
Cytogenetic locations: PDIA6
#614800 - SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY; SOPH
Cytogenetic locations: 15612572
#616546 - SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14
Cytogenetic locations: #Y####
#215140 - GREENBERG DYSPLASIA; GRBGD
Cytogenetic locations: 613455
#241500 - HYPOPHOSPHATASIA, INFANTILE; HPPI
HYPOPHOSPHATASIA, PERINATAL LETHAL, INCLUDED; HPPN, INCLUDED
Cytogenetic locations: 18386808
#610015 - GLUTAMINE DEFICIENCY, CONGENITAL; GLND
Cytogenetic locations: 21353613
#619142 - CARDIOACROFACIAL DYSPLASIA 1; CAFD1
Cytogenetic locations: 33058759
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