Clinical and research tests for Microlepia cystopteroides - Genetic Testing Registry (GTR)

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Select all conditions on this page	Conditions	Synonyms
Select item 358383	Thanatophoric dysplasia type 1	LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, SAN DIEGO TYPE Thanatophoric Dysplasia Type I
Select item 226975	Thanatophoric dysplasia, type 2	Cloverleaf skull with thanatophoric dwarfism THANATOPHORIC DYSPLASIA WITH STRAIGHT FEMURS AND CLOVERLEAF SKULL Thanatophoric Dysplasia Type II Thanatophoric dysplasia with Kleeblattschaedel
Select item 375009	Spondyloenchondrodysplasia with immune dysregulation	COMBINED IMMUNODEFICIENCY WITH AUTOIMMUNITY AND SPONDYLOMETAPHYSEAL DYSPLASIA ROIFMAN IMMUNOSKELETAL SYNDROME SPONDYLOENCHONDRODYSPLASIA WITH OR WITHOUT IMMUNE DYSREGULATION
Select item 78546	Achondrogenesis, type IA	Achondrogenesis Houston-Harris type Achondrogenesis type 1A
Select item 347372	Lethal Kniest-like syndrome	Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type Dyssegmental Dysplasia Dyssegmental Dysplasia, Silverman-Handmaker Type Dyssegmental dwarfism Silverman-Handmaker type
Select item 340513	Autosomal recessive omodysplasia	MICROMELIC DYSPLASIA, CONGENITAL, WITH DISLOCATION OF RADIUS Micromelic dysplasia congenita with dislocation of radius Omodysplasia 1 Omodysplasia generalized form
Select item 1709064	Vertebral, cardiac, renal, and limb defects syndrome 3	CONGENITAL NAD DEFICIENCY DISORDER 3
Select item 350042	Cleidorhizomelic syndrome	Brachydactyly, enlarged diaphysis, rhizomelic micromelia, short stature and abnormal clavicle Rhizomelic shortness with clavicular defect Wallis Zieff Goldblatt syndrome
Select item 350957	Microcephaly, facial abnormalities, micromelia, and intellectual disability	Microcephaly, facial abnormalities, micromelia, and mental retardation
Select item 84	Achondrogenesis
Select item 1842810	Primary bone dysplasia with micromelia
Select item 333149	Chondrodysplasia-pseudohermaphroditism syndrome	Chondrodysplasia pseudohermaphrodism syndrome Nivelon Nivelon Mabille syndrome Pseudohermaphrodism and chondrodysplasia
Select item 344453	Metaphyseal acroscyphodysplasia	Cupped metaphyses and cone-shaped epiphyses of knees with brachydactyly Wedge-shaped epiphyses of knees
Select item 96582	Metaphyseal anadysplasia	Early-onset regressive form of metaphyseal dysplasia
Select item 1377242	Microlissencephaly-micromelia syndrome
Select item 1674171	Cloverleaf skull-asphyxiating thoracic dysplasia syndrome	Benallegue Lacete syndrome Cloverleaf skull and asphyxiating thoracic dysplasia
Select item 1801714	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
Select item 75677	Infantile hypophosphatasia
Select item 1645760	Cornelia de Lange syndrome 1	Brachmann de Lange syndrome NIPBL-Related Cornelia de Lange Syndrome Typus degenerativus amstelodamensis
Select item 61231	Smith-Lemli-Opitz syndrome	7-Dehydrocholesterol reductase deficiency LETHAL ACRODYSGENITAL SYNDROME POLYDACTYLY, SEX REVERSAL, RENAL HYPOPLASIA, AND UNILOBAR LUNG RSH syndrome RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME SLO syndrome type 1 Smith-Lemli-Opitz syndrome type 1

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