Clinical and research tests for Haasia elongata - Genetic Testing Registry (GTR)

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Select all conditions on this page	Conditions	Synonyms
Select item 140768	Hyperimmunoglobulin D with periodic fever	Hyper IgD Syndrome Hyperimmunoglobulinemia D Hyperimmunoglobulinemia D and periodic fever syndrome Hyperimmunoglobulinemia D with periodic fever Periodic fever Dutch type
Select item 860583	Desbuquois dysplasia 1	DESBUQUOIS DYSPLASIA 1, KIM VARIANT MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION
Select item 140932	Worth disease	Endosteal hyperostosis, Worth type Endosteal hyperostosis, autosomal dominant Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus Osteosclerosis autosomal dominant Worth type Osteosclerosis, autosomal dominant
Select item 905084	Spondyloepiphyseal dysplasia, Stanescu type	SED, STANESCU TYPE SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STANESCU TYPE
Select item 863127	Tall stature-scoliosis-macrodactyly of the great toes syndrome	Epiphyseal chondrodysplasia, miura type
Select item 75596	Taurodontism	Bull teeth Large pulp chambers in the molars Taurodontia
Select item 896409	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome	Kosaki overgrowth syndrome SKELETAL OVERGROWTH WITH FACIAL DYSMORPHISM, HYPERELASTIC SKIN, WHITE MATTER LESIONS, AND NEUROLOGIC DETERIORATION
Select item 767362	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GAND SYNDROME
Select item 98363	Reticulate acropigmentation of Kitamura	Kitamura reticulate acropigmentation Reticular pigment anomaly of flexures
Select item 382215	Renal-hepatic-pancreatic dysplasia
Select item 338605	Brachyolmia type 1, Hobaek type	BCYM1A Brachyolmia recessive type of Hobaek Spondylodysplasia with pure brachyolmia
Select item 400340	Blue nevi, familial multiple
Select item 1684686	Catifa syndrome	CLEFT LIP, CATARACT, TOOTH ABNORMALITY, IMPAIRED INTELLECTUAL DEVELOPMENT, FACIAL DYSMORPHISM, AND ATTENTION-DEFICIT HYPERACTIVITY DISORDER
Select item 1794202	Boudin-Mortier syndrome	Tall stature and long digits with extra epiphyses
Select item 336441	Thoracomelic dysplasia	Thoraco-limb dysplasia
Select item 322177	Velo-facial-skeletal syndrome	Velofacioskeletal syndrome
Select item 1841140	RECON progeroid syndrome
Select item 1841133	Cerebroretinal microangiopathy with calcifications and cysts 3
Select item 356655	Flat face-microstomia-ear anomaly syndrome	Simosa cranio facial syndrome
Select item 107818	Calcified aponeurotic fibroma

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