PanelApp (test)
  1. Panels
  2. Lysosomal Storage Disorder
Description
This panel was developed and is maintained by VCGS.

The lysosomal storage diseases are a group of progressive metabolic disorders that are caused by enzyme deficiencies within the lysosome. The abnormal storage process leads to a broad spectrum of somatic and/or neurological clinical manifestations depending on the specific substrate and site of accumulation. Examples include the mucopolysaccharidoses, mucolipidoses, oligosaccharidoses, Pompe disease, Gaucher disease, Fabry disease, the Niemann-Pick disorders, and neuronal ceroid lipofuscinoses.

If the clinical presentation is not specific for a lysosomal storage disorder, please consider the broader Metabolic Disorders Superpanel.
Panel Activity

6 reviewers

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

73 Entities

60 reviewed, 71 green

List Entity Reviews Mode of inheritance Details
73 Entitiess
Green Green List (high evidence)
AGA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Aspartylglucosaminuria, MIM# 208400
  • MONDO:0008830
Tags
Green Green List (high evidence)
AP5Z1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of autophagy
  • hereditary spastic paraplegia MONDO:0019064
Tags
Green Green List (high evidence)
ARSA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Metachromatic leukodystrophy, MIM# 250100
  • MONDO:0009591
Tags
  • clinical trial
  • treatable
Green Green List (high evidence)
ARSB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200
  • MONDO:0009661
Tags
  • clinical trial
  • treatable
Green Green List (high evidence)
ARSK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mucopolysaccharidosis MONDO:0019249, ARSK-related
Tags
Green Green List (high evidence)
ASAH1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Farber lipogranulomatosis, MIM# 228000
Tags
Green Green List (high evidence)
ATP13A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 78, autosomal recessive 617225
Tags
Green Green List (high evidence)
CLCN6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Benign partial epilepsy
  • febrile seizures
  • NCL
Tags
Green Green List (high evidence)
CLN3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 3, MIM# 204200
  • MONDO:0008767
Tags
Green Green List (high evidence)
CLN5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 5, MIM# 256731
  • MONDO:0009745
Tags
Green Green List (high evidence)
CLN6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 6, MIM# 601780
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300
Tags
Green Green List (high evidence)
CLN8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 8, MIM# 600143
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003
Tags
  • founder
Green Green List (high evidence)
CTNS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cystinosis, late-onset juvenile or adolescent nephropathic 219900
  • Cystinosis, nephropathic 219800
  • Cystinosis, ocular nonnephropathic 219750
Tags
  • treatable
Green Green List (high evidence)
CTSA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Galactosialidosis, MIM# 256540
Tags
Green Green List (high evidence)
CTSC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ectodermal dysplasia syndrome MONDO:0019287
  • Other disorders of complex molecule degradation
Tags
Green Green List (high evidence)
CTSD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 10, MIM# 610127
  • MONDO:0012414
Tags
Green Green List (high evidence)
CTSF
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362
Tags
Green Green List (high evidence)
CTSK
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Pycnodysostosis 265800
Tags
Green Green List (high evidence)
DNAJC5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 4, Parry type, MIM# 162350
  • MONDO:0008083
Tags
Green Green List (high evidence)
EPG5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of autophagy
  • Vici syndrome MONDO:0009452
Tags
Green Green List (high evidence)
FUCA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fucosidosis, MIM# 230000
  • MONDO:0009254
Tags
Green Green List (high evidence)
GAA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease II, MIM# 232300
  • MONDO:0009290
Tags
Green Green List (high evidence)
GALC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Krabbe disease, MIM# 245200
  • MONDO:0009499
Tags
Green Green List (high evidence)
GALNS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis IVA, MIM# 253000
  • MONDO:0009659
Tags
  • treatable
Green Green List (high evidence)
GBA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Gaucher disease, perinatal lethal, MIM# 608013
  • Gaucher disease, type I, MIM# 230800
  • Gaucher disease, type II, MIM# 230900
  • Gaucher disease, type III, MIM# 231000
  • Gaucher disease, type IIIC, MIM# 231005
Tags
Green Green List (high evidence)
GLA
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fabry disease, MIM# 301500
  • MONDO:0010526
Tags
Green Green List (high evidence)
GLB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • GM1-gangliosidosis, type I, MIM# 230500
  • GM1-gangliosidosis, type II, MIM# 230600
  • GM1-gangliosidosis, type III, MIM# 230650
  • Mucopolysaccharidosis type IVB (Morquio), MIM# 253010
Tags
Green Green List (high evidence)
GM2A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • GM2-gangliosidosis, AB variant, MIM# 272750
Tags
Green Green List (high evidence)
GNE
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Nonaka myopathy, MIM# 605820
Tags
Green Green List (high evidence)
GNPTAB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucolipidosis II alpha/beta, MIM# 252500
  • MONDO:0009650
  • Mucolipidosis III alpha/beta, MIM# 252600
  • MONDO:0018931
Tags
Green Green List (high evidence)
GNPTG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucolipidosis III gamma, MIM# 252605
  • MONDO:0009652
Tags
Green Green List (high evidence)
GNS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis type IIID, MIM# 252940
  • Sanfilippo syndrome type D, MONDO:0009658
Tags
Green Green List (high evidence)
GRN
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • neuronal ceroid lipofuscinosis MONDO:0016295
  • GRN-related frontotemporal lobar degeneration with Tdp43 inclusions MONDO:0011842
Tags
Green Green List (high evidence)
GUSB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis VII, MIM# 253220
  • MONDO:0009662
Tags
Green Green List (high evidence)
HEXA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • GM2-gangliosidosis, several forms, MIM# 272800
  • Tay-Sachs disease, MIM# 272800
  • MONDO:0010100
Tags
Green Green List (high evidence)
HEXB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800
  • MONDO:0010006
Tags
Green Green List (high evidence)
HGSNAT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930
  • MONDO:0009657
  • Retinitis pigmentosa 73, MIM# 616544
  • MONDO:0014687
Tags
Green Green List (high evidence)
HPS1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hermansky-Pudlak syndrome 1, MIM# 203300
Tags
Green Green List (high evidence)
IDS
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis II, MIM# 309900
  • MONDO:0010674
  • Hunter syndrome
Tags
  • treatable
Green Green List (high evidence)
IDUA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis Ih, MIM# 607014
  • Mucopolysaccharidosis Ih/s, MIM# 607015
  • Mucopolysaccharidosis Is, MIM# 607016
  • Mucopolysaccharidosis type 1, MONDO:0001586
Tags
Green Green List (high evidence)
KCTD7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Progressive myoclonus epilepsy MONDO:0020074
  • Neuronal ceroid lipofuscinosis
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
  • Victorian Clinical Genetics Services
Phenotypes
  • Danon disease, MIM# 300257
  • MONDO:0010281
Tags
Green Green List (high evidence)
LIPA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cholesteryl ester storage disease, MIM# 278000
  • Wolman disease, MIM# 278000
  • Lysosomal acid lipase deficiency, MONDO:0010204
Tags
  • treatable
Green Green List (high evidence)
MAN2B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mannosidosis, alpha-, types I and II, MIM# 248500
  • MONDO:0009561
Tags
  • treatable
Green Green List (high evidence)
MANBA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mannosidosis, beta, MIM# 248510
  • MONDO:0009562
Tags
Green Green List (high evidence)
MCOLN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucolipidosis IV, MIM# 252650
  • MONDO:0009653
Tags
  • SV/CNV
Green Green List (high evidence)
MFSD8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 7, MIM# 610951
  • MONDO:0012588
  • Macular dystrophy with central cone involvement, MIM# 616170
  • MONDO:0014515
Tags
Green Green List (high evidence)
NAGA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Kanzaki disease, MIM# 609242
  • Schindler disease, type I and type II 609241
  • alpha-N-acetylgalactosaminidase deficiency MONDO:0017779
Tags
Green Green List (high evidence)
NAGLU
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920
  • MONDO:0009656
  • Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491
  • MONDO:0014665
Tags
Green Green List (high evidence)
NEU1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sialidosis, type I and type II, MIM# 256550
  • MONDO:0009738
Tags
Green Green List (high evidence)
NPC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Niemann-Pick disease, type C1 and type D, MIM# 257220
  • MONDO:0009757
Tags
Green Green List (high evidence)
NPC2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Niemann-pick disease, type C2, MIM# 607625
  • MONDO:0011873
Tags
Green Green List (high evidence)
PPT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 1, MIM# 256730
  • MONDO:0009744
Tags
Green Green List (high evidence)
PSAP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined SAP deficiency, MIM# 611721
  • Encephalopathy due to prosaposin deficiency, MONDO:0012719
  • Krabbe disease, atypical, MIM# 611722
  • MONDO:0012720
  • Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900
  • MONDO:0009590
  • Gaucher disease, atypical, MIM# 610539
  • MONDO:0012517
Tags
Green Green List (high evidence)
RAB7A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Disorders of autophagy
  • Charcot-Marie-Tooth disease type 2 MONDO:0018993
Tags
Green Green List (high evidence)
SCARB2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • action myoclonus-renal failure syndrome MONDO:0009699
  • Other disorders of complex molecule degradation
Tags
Green Green List (high evidence)
SGSH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900
  • MONDO:0009655
Tags
Green Green List (high evidence)
SLC17A5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Salla disease 604369
  • MONDO:0011449
  • Sialic acid storage disorder, infantile 269920
  • MONDO:0010027
Tags
  • founder
Green Green List (high evidence)
SMPD1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Niemann-Pick disease, type A, MIM# 257200
  • MONDO:0009756
  • Niemann-Pick disease, type B, MIM# 607616
  • MONDO:0011871
Tags
Green Green List (high evidence)
SNX14
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of autophagy
  • autosomal recessive spinocerebellar ataxia 20 MONDO:0014601
Tags
Green Green List (high evidence)
SPG11
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of autophagy
  • hereditary spastic paraplegia 11 MONDO:0011445
Tags
Green Green List (high evidence)
SUMF1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Multiple sulfatase deficiency (MIM#272200)
Tags
Green Green List (high evidence)
TBK1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • frontotemporal dementia with motor neuron disease MONDO:0017161
  • Disorders of autophagy
Tags
Green Green List (high evidence)
TECPR2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of autophagy
  • hereditary spastic paraplegia 49 MONDO:0014016
Tags
Green Green List (high evidence)
TPP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 2, MIM# 204500
  • MONDO:0008769
  • Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270
  • MONDO:0012235
Tags
Green Green List (high evidence)
VIPAS39
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404
Tags
Green Green List (high evidence)
VPS16
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365
Tags
Green Green List (high evidence)
VPS33A
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis-plus syndrome (MIM#617303)
Tags
Green Green List (high evidence)
VPS33B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 1, MIM# 208085
Tags
Green Green List (high evidence)
WDR45
0 reviews
 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
Phenotypes
  • Disorders of autophagy
  • X-linked complex neurodevelopmental disorder MONDO:0100148
Tags
Green Green List (high evidence)
ZFYVE26
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Disorders of autophagy
  • hereditary spastic paraplegia 15 MONDO:0010044
Tags
Amber Amber List (moderate evidence)
CLCN7
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541
Tags
Amber Amber List (moderate evidence)
HYAL1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Mucopolysaccharidosis type IX, MIM# 601492
  • MONDO:0011093
Tags

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