Lysosomal storage disorder (Version 3.3)

The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

Description

This panel is used for clinical indication 'R276 Lysosomal storage disorder' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R276 Lysosomal storage disorder'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

Panel Activity

7 reviewers

Emma Ashton (Great Ormond Street Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Carol Hardy (West Midlands Regional Genetics Laboratory)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

56 Entities

56 reviewed, 55 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 56 Entitiess
Green Green List (high evidence)	AGA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Aspartylglucosaminuria OMIM:208400 aspartylglucosaminuria MONDO:0008830 Tags
Green Green List (high evidence)	ARSA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Metachromatic leukodystrophy OMIM:250100 metachromatic leukodystrophy, juvenile form MONDO:0009591 Tags
Green Green List (high evidence)	ARSB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy) OMIM:253200 mucopolysaccharidosis type 6 MONDO:0009661 Tags
Green Green List (high evidence)	ARSG	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Phenotypes Usher syndrome, type IV OMIM:618144 usher syndrome, type 4 MONDO:0029141 Tags
Green Green List (high evidence)	ASAH1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Farber lipogranulomatosis OMIM:228000 Farber lipogranulomatosis MONDO:0009218 Tags
Green Green List (high evidence)	ATP13A2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Spastic paraplegia 78, autosomal recessive OMIM:617225 autosomal recessive spastic paraplegia type 78 MONDO:0014975 Tags
Green Green List (high evidence)	CLN3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Ceroid lipofuscinosis, neuronal, 3 OMIM:204200 neuronal ceroid lipofuscinosis 3 MONDO:0008767 Tags
Green Green List (high evidence)	CLN5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Ceroid lipofuscinosis, neuronal, 5 OMIM:256731 neuronal ceroid lipofuscinosis 5 MONDO:0009745 Tags
Green Green List (high evidence)	CLN6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Ceroid lipofuscinosis, neuronal, 6 OMIM:601780 neuronal ceroid lipofuscinosis 6 MONDO:0011144 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset OMIM:204300 neuronal ceroid lipofuscinosis 4A MONDO:0008768 Tags
Green Green List (high evidence)	CLN8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Ceroid lipofuscinosis, neuronal, 8 OMIM:600143 neuronal ceroid lipofuscinosis 8 MONDO:0010830 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant OMIM:610003 neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391 Tags
Green Green List (high evidence)	CTNS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Cystinosis, atypical nephropathic OMIM:219800 Cystinosis, nephropathic OMIM:219800 Cystinosis, late-onset juvenile or adolescent nephropathic OMIM:219900 Cystinosis, ocular nonnephropathic OMIM:219750 nephropathic cystinosis MONDO:0100151 juvenile nephropathic cystinosis MONDO:0009066 ocular cystinosis MONDO:0009064 Tags
Green Green List (high evidence)	CTSA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Galactosialidosis OMIM:256540 galactosialidosis MONDO:0009737 Tags
Green Green List (high evidence)	CTSD	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Ceroid lipofuscinosis, neuronal, 10 OMIM:610127 neuronal ceroid lipofuscinosis 10 MONDO:0012414 Tags
Green Green List (high evidence)	CTSF	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362 neuronal ceroid lipofuscinosis 13 MONDO:0014147 Tags
Green Green List (high evidence)	CTSK	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Pycnodysostosis OMIM:265800 pycnodysostosis MONDO:0009940 Tags
Green Green List (high evidence)	DNAJC5	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Ceroid lipofuscinosis, neuronal, 4, Parry type OMIM:162350 neuronal ceroid lipofuscinosis 4B MONDO:0008083 Tags
Green Green List (high evidence)	FUCA1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Fucosidosis OMIM:230000 fucosidosis MONDO:0009254 Tags
Green Green List (high evidence)	GAA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Glycogen storage disease II OMIM:232300 glycogen storage disease II MONDO:0009290 Tags
Green Green List (high evidence)	GALC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Krabbe disease OMIM:245200 Krabbe disease MONDO:0009499 Tags
Green Green List (high evidence)	GALNS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Mucopolysaccharidosis IVA OMIM:253000 mucopolysaccharidosis type 4A MONDO:0009659 Tags
Green Green List (high evidence)	GBA	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Gaucher disease, type I OMIM:230800 Gaucher disease type I MONDO:0009265 Gaucher disease, type III OMIM:231000 Gaucher disease type III MONDO:0009267 Gaucher disease, type IIIC OMIM:231005 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome MONDO:0009268 Gaucher disease, perinatal lethal OMIM:608013 Gaucher disease perinatal lethal MONDO:0011945 Gaucher disease, type II OMIM:230900 Gaucher disease type II MONDO:0009266 Tags new-gene-name
Green Green List (high evidence)	GLA	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Fabry disease OMIM:301500 Fabry disease MONDO:0010526 Tags
Green Green List (high evidence)	GLB1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Mucopolysaccharidosis type IVB (Morquio) OMIM:253010 mucopolysaccharidosis type 4B MONDO:0009660 GM1-gangliosidosis, type III OMIM:230650 GM1 gangliosidosis type 3 MONDO:0009262 GM1-gangliosidosis, type I OMIM:230500 GM1 gangliosidosis type 1 MONDO:0009260 GM1-gangliosidosis, type II OMIM:230600 GM1 gangliosidosis type 2 MONDO:0009261 Tags
Green Green List (high evidence)	GM2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes GM2-gangliosidosis, AB variant OMIM:272750 Tay-Sachs disease AB variant MONDO:0010099 Tags
Green Green List (high evidence)	GNE	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Sialuria OMIM:269921 sialuria MONDO:0010028 Nonaka myopathy OMIM:605820 GNE myopathy MONDO:0011603 Tags
Green Green List (high evidence)	GNPTAB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Mucolipidosis II alpha/beta OMIM:252500 mucolipidosis type II MONDO:0009650 Mucolipidosis III alpha/beta OMIM:252600 mucolipidosis type III MONDO:0018931 Tags
Green Green List (high evidence)	GNPTG	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Mucolipidosis III gamma OMIM:252605 mucolipidosis type III gamma MONDO:0009652 Tags
Green Green List (high evidence)	GNS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Mucopolysaccharidosis type IIID 252940 Tags
Green Green List (high evidence)	GUSB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Mucopolysaccharidosis VII OMIM:253220 mucopolysaccharidosis type 7 MONDO:0009662 Tags
Green Green List (high evidence)	HEXA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Tay-Sachs disease OMIM:272800 GM2-gangliosidosis, several forms OMIM:272800 Tay-Sachs disease MONDO:0010100 Tags
Green Green List (high evidence)	HEXB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Sandhoff disease, infantile, juvenile, and adult forms OMIM:268800 Sandhoff disease MONDO:0010006 Tags
Green Green List (high evidence)	HGSNAT	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C) OMIM:252930 Sanfilippo syndrome type C MONDO:0009657 Tags
Green Green List (high evidence)	HYAL1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes ?Mucopolysaccharidosis type IX OMIM:601492 mucopolysaccharidosis type 9 MONDO:0011093 Tags
Green Green List (high evidence)	IDS	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Mucopolysaccharidosis II OMIM:309900 mucopolysaccharidosis type 2 MONDO:0010674 Tags
Green Green List (high evidence)	IDUA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Mucopolysaccharidosis Ih OMIM:607014 Hurler syndrome MONDO:0011758 Mucopolysaccharidosis Is OMIM:607016 Scheie syndrome MONDO:0011760 Mucopolysaccharidosis Ih/s OMIM:607015 Hurler-Scheie syndromeMONDO:0011759 Tags
Green Green List (high evidence)	LAMP2	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Danon disease OMIM:300257 Danon disease MONDO:0010281 Tags
Green Green List (high evidence)	LIPA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Cholesteryl ester storage disease OMIM:278000 Wolman disease OMIM:278000 lysosomal acid lipase deficiency MONDO:0010204 Tags
Green Green List (high evidence)	MAN2B1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Mannosidosis, alpha-, types I and II OMIM:248500 alpha-mannosidosis MONDO:0009561 Tags
Green Green List (high evidence)	MANBA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Mannosidosis, beta OMIM:248510 beta-mannosidosis MONDO:0009562 Tags
Green Green List (high evidence)	MCOLN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Mucolipidosis IV OMIM:252650 mucolipidosis type IV MONDO:0009653 Tags
Green Green List (high evidence)	MFSD8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Ceroid lipofuscinosis, neuronal, 7 OMIM:610951 neuronal ceroid lipofuscinosis 7 MONDO:0012588 Tags
Green Green List (high evidence)	NAGA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Schindler disease, type I OMIM:609241 Schindler disease, type III OMIM:609241 alpha-N-acetylgalactosaminidase deficiency type 1MONDO:0012221 Kanzaki disease OMIM:609242 alpha-N-acetylgalactosaminidase deficiency type 2 MONDO:0012222 Tags
Green Green List (high evidence)	NAGLU	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B) OMIM:252920 Sanfilippo syndrome type B MONDO:0009656 Tags
Green Green List (high evidence)	NEU1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Sialidosis, type II OMIM:256550 Sialidosis, type I OMIM:256550 sialidosis type 2 MONDO:0009738 Tags
Green Green List (high evidence)	NPC1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Niemann-Pick disease, type D OMIM:257220 Niemann-Pick disease, type C1 OMIM:257220 Niemann-Pick disease, type C1 MONDO:0009757 Tags
Green Green List (high evidence)	NPC2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Niemann-pick disease, type C2 OMIM:607625 Niemann-Pick disease, type C2 MONDO:0011873 Tags
Green Green List (high evidence)	PPT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Ceroid lipofuscinosis, neuronal, 1 OMIM:256730 neuronal ceroid lipofuscinosis 1 MONDO:0009744 Tags
Green Green List (high evidence)	PSAP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Krabbe disease, atypical OMIM:611722 Krabbe disease, atypical, due to saposin A deficiency MONDO:0012720 Combined SAP deficiency OMIM:611721 encephalopathy due to prosaposin deficiency MONDO:0012719 Gaucher disease, atypical OMIM:610539 atypical Gaucher disease due to saposin C deficiency MONDO:0012517 Metachromatic leukodystrophy due to SAP-b deficiency OMIM:249900 metachromatic leukodystrophy due to saposin b deficiency MONDO:0009590 Tags
Green Green List (high evidence)	SGSH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Mucopolysaccharidosis type IIIA (Sanfilippo A) OMIM:252900 Sanfilippo syndrome type A MONDO:0009655 Tags
Green Green List (high evidence)	SLC17A5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Salla disease OMIM:604369 Salla disease MONDO:0011449 Sialic acid storage disorder, infantile OMIM:269920 free sialic acid storage disease, infantile form MONDO:0010027 Tags
Green Green List (high evidence)	SMPD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Niemann-Pick disease, type A OMIM:257200 Niemann-Pick disease type A MONDO:0009756 Niemann-Pick disease, type B OMIM:607616 Niemann-Pick disease type B MONDO:0011871 Tags
Green Green List (high evidence)	SUMF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Multiple sulfatase deficiency OMIM:272200 mucosulfatidosis MONDO:0010088 Tags
Green Green List (high evidence)	TPP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North London GLH Wessex and West Midlands GLH Phenotypes Ceroid lipofuscinosis, neuronal, 2 OMIM:204500 neuronal ceroid lipofuscinosis 2 MONDO:0008769 Tags
Green Green List (high evidence)	VPS16	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mucopolysaccharidosis-like syndrome (biallelic) Dystonia Associated with Lysosomal Abnormalities (monoallelic) Dystonia 30, OMIM:619291 Tags
Green Green List (high evidence)	VPS33A	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Mucopolysaccharidosis-plus syndrome OMIM:617303 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012 Tags
Amber Amber List (moderate evidence)	CLCN7	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541 Tags watchlist

Major version comments

2023-03-22 16:58 Catherine Snow (Genomics England) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (2.0) following this.

2022-11-30 14:26 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 2.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (2.0) following this.

2019-09-17 11:32 Sarah Leigh (Genomics England Curator) promoted panel to 1.0
The content of this panel (version 0.1) was signed off under NHS Genomic Medicine Service governance on (17/09/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Lysosomal storage disorder (Version 3.3)

7 reviewers

56 Entities

56 reviewed, 55 green

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