Clinical and research tests for Psychotria punctata - Genetic Testing Registry (GTR)

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Select all conditions on this page	Conditions	Synonyms
Select item 347072	Rhizomelic chondrodysplasia punctata type 1	Chondrodysplasia punctata rhizomelic form Chondrodystrophia calcificans punctata PEROXISOME BIOGENESIS DISORDER 9
Select item 79381	Chondrodysplasia punctata 2 X-linked dominant	CONRADI-HUNERMANN-HAPPLE SYNDROME Chondrodysplasia punctata, X-linked dominant Conrad Hunermann Happle syndrome Happle syndrome Hunermann-Conradi Syndrome
Select item 777171	X-linked chondrodysplasia punctata 1	Arylsulfatase E deficiency Chondrodysplasia punctata 1, X-linked recessive Chondrodysplasia punctata, X-linked recessive Chondrodysplasia punctata, brachytelephalangic
Select item 341734	Rhizomelic chondrodysplasia punctata type 2	Chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate acyltransferase deficiency Dihydroxyacetonephosphate acyltransferase deficiency Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency glyceronephosphate O-acyltransferase (GNPAT) deficiency
Select item 374012	Rhizomelic chondrodysplasia punctata type 3	Alkyldihydroxyacetonephosphate synthase deficiency Alkylglycerone Phosphate Synthase (AGPS) deficiency
Select item 900333	Rhizomelic chondrodysplasia punctata type 5
Select item 1648474	Peroxisome biogenesis disorder 1A (Zellweger)	Peroxisome biogenesis disorder 1a Zellweger leukodystrophy
Select item 79470	Peroxisome biogenesis disorder 1B	Infantile Refsum disease Infantile form of phytanic acid storage disease Refsum disease, infantile form
Select item 303176	Autosomal dominant chondrodysplasia punctata	CHONDRODYSPLASIA PUNCTATA DUE TO VITAMIN K DEFICIENCY
Select item 330407	Peroxisome biogenesis disorder	ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL ALD: Adrenoleukodystrophy, X-Linked INFANTILE PHYTANIC ACID STORAGE DISEASE PEROXISOME BIOGENESIS DISORDER (NALD/IRD) PEROXISOME BIOGENESIS DISORDER (NEONATAL ADRENOLEUKODYSTROPHY/INFANTILE REFSUM DISEASE) Peroxisome biogenesis disorders, Zellweger syndrome spectrum
Select item 79471	Rhizomelic chondrodysplasia punctata
Select item 763148	Peroxisome biogenesis disorder 2B
Select item 766861	Peroxisome biogenesis disorder 6A (Zellweger)	Peroxisome biogenesis disorder 6A
Select item 21958	Zellweger spectrum disorders	Zellweger Spectrum Zellweger Spectrum Disorder Zellweger syndrome
Select item 766843	Peroxisome biogenesis disorder 3A (Zellweger)	PEROXISOMAL BIOGENESIS DISORDER 3A (ZELLWEGER) Peroxisome biogenesis disorder 3A
Select item 766918	Peroxisome biogenesis disorder 13A (Zellweger)	Peroxisome biogenesis disorder 13A
Select item 766854	Peroxisome biogenesis disorder 5A (Zellweger)
Select item 766916	Peroxisome biogenesis disorder 12A (Zellweger)	Peroxisome biogenesis disorder 12A
Select item 854881	Peroxisome biogenesis disorder 7A (Zellweger)	Peroxisome biogenesis disorder 7A
Select item 763187	Peroxisome biogenesis disorder 2A (Zellweger)	Cerebrohepatorenal syndrome Cerebrohepatorenal syndrome, variant types

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