Mucopolysaccharidosis type 2

General Information (adopted from Orphanet):

Synonyms, Signs: MPS II
MPS2
Hunter syndrome
Sulfoiduronate sulfatase deficiency
SIDS deficiency
iduronate 2-sulfatase deficiency
IDS deficiency
Number of Symptoms 164
OrphanetNr: 580
OMIM Id: 309900
ICD-10: E76.1
UMLs: C0026705
C2718304
MeSH: D016532
MedDRA: 10056889
Snomed: 70737009

Prevalence, inheritance and age of onset:

Prevalence: 1 of 100 000 - PMID: 26023658 [IBIS]
Inheritance: X-linked
- PMID: 26023658 [IBIS]
Age of onset: Childhood
- PMID: 26023658 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Lysosomal disease with hypertrophic cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease
Lysosomal storage disease with skeletal involvement
 -Rare bone disease
 -Rare genetic disease
Mucopolysaccharidosis
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Mucopolysaccharidosis with skin involvement
 -Rare genetic disease
 -Rare skin disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease
Ptosis
 -Rare eye disease
 -Rare genetic disease
Syndromic neurometabolic disease with X-linked intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Comment:

Mucopolysaccharidosis II (MPS2), also known as Hunter syndrome, is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyzes a step in the catabolism of glycosaminoglycans. In patients with MPS2, glycosaminoglycans accumulate within tissues and organs, contributing to the signs and symptoms of the disease. MPS2 affects multiple organs and physiologic systems and has a variable age of onset and variable rate of progression. MPS2 is chronic and progressive. A newborn infant may appear normal, and yet, within a few years progress into a physically abnormal and mentally impaired individual. (PMID:18245410) The rarity of Hunter syndrome and the fact that most mutations are private makes evaluation of the genotype-phenotype relationship difficult; however, the complete absence of functional enzyme caused by total or partial gene deletion or by gene/pseudogene rearrangement seems to result in the severe phenotype. Point mutations that result in the change of single amino acids in the enzyme have been reported to be associated with a wide range of phenotypes, spanning the entire spectrum from severe to attenuated. The same IDS mutation may be associated with different phenotypes. (PMID:18245410) Although complete absence of iduronate 2-sulfatase (IDS) activity is invariably associated with a severe phenotype, the converse is not true. Neither the amount of IDS nor its activity, as determined by routine diagnostic assays, correlates with phenotype severity in patients with Hunter syndrome. (PMID:18245410) Hunter syndrome is an X-linked, recessive inherited disease that affects males nearly exclusively. Females carrying a mutation in 1 IDS allele are usually asymptomatic. (PMID:18245410) The traditional classification of patients into ‘mild’ or ‘severe’ subtypes, on the basis of length of survival and the presence or absence of CNS disease, is a gross simplification. The disorder should rather be regarded as a continuum between two extremes (severe and attenuated). (PMID:18038146) Mucopolysaccharidosis type 2 comprises the following Phenodis entries: Phenodis:2217 Mucopolysaccharidosis type 2, severe form Orphanet:217085 Phenodis:2218 Mucopolysaccharidosis type 2, attenuated form Orphanet:217093

Symptom Information: Sort by abundance 

1
(HPO:0000662) Nyctalopia 18038146 IBIS 92 / 7739
2
(HPO:0008301) Dermatan sulfate excretion in urine Frequent [IBIS] 16918195; 18038146 IBIS 8 / 7739
3
(HPO:0000014) Abnormality of the bladder 18245410 IBIS 3 / 7739
4
(HPO:0002159) Heparan sulfate excretion in urine Frequent [IBIS] 16918195; 18038146 IBIS 12 / 7739
5
(HPO:0003541) Urinary glycosaminoglycan excretion 18245410; 24818348 IBIS 6 / 7739
6
(HPO:0000016) Urinary retention 18245410 IBIS 7 / 7739
7
(HPO:0000336) Prominent supraorbital ridges 18245410 IBIS 45 / 7739
8
(HPO:0002684) Thickened calvaria 26023658; 16918195; 18038146 IBIS 32 / 7739
9
(HPO:0000268) Dolichocephaly Very frequent [Orphanet] 24818348; 16918195 IBIS 144 / 7739
10
(HPO:0000679) Taurodontia 26023658 IBIS 27 / 7739
11
(HPO:0000212) Gingival overgrowth 18245410; 25071396 IBIS 43 / 7739
12
(HPO:0009928) Thick nasal alae 18038146 IBIS 21 / 7739
13
(HPO:0011079) Impacted tooth 26023658 IBIS 3 / 7739
14
(HPO:0000303) Mandibular prognathia Frequent [Orphanet] 26633932; 6816147 IBIS 179 / 7739
15
(HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 26023658; 24818348 IBIS 381 / 7739
16
(HPO:0000470) Short neck Very frequent [Orphanet] 24818348 IBIS 345 / 7739
17
(HPO:0000316) Hypertelorism 26023658 IBIS 644 / 7739
18
(HPO:0012384) Rhinitis 18038146 IBIS 18 / 7739
19
(HPO:0100540) Palpebral edema 26023658 IBIS 31 / 7739
20
(HPO:0010754) Abnormality of the temporomandibular joint 18245410 IBIS 1 / 7739
21
(HPO:0000457) Depressed nasal ridge Very frequent [Orphanet] 16918195 IBIS 85 / 7739
22
(HPO:0002690) Large sella turcica 24818348 IBIS 12 / 7739
23
(HPO:0000158) Macroglossia Frequent [IBIS] Occasional [Orphanet] 26023658; 26633932; 18245410; 24818348; 16918195; 18038146 IBIS 119 / 7739
24
(HPO:0000280) Coarse facial features Very frequent [IBIS] Very frequent [Orphanet] 26023658; 26633932; 24818348; 16918195; 18038146 IBIS 189 / 7739
25
(HPO:0100539) Periorbital edema 26023658; 16918195 IBIS 8 / 7739
26
(HPO:0000256) Macrocephaly Frequent [IBIS] Very frequent [Orphanet] 26023658; 18245410; 16918195; 18038146 IBIS 298 / 7739
27
(HPO:0012471) Thick vermilion border 18245410; 24818348; 16918195; 18038146 IBIS 115 / 7739
28
(HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 26023658 IBIS 291 / 7739
29
(HPO:0000574) Thick eyebrow 26023658 IBIS 96 / 7739
30
(HPO:0002007) Frontal bossing 26023658 IBIS 366 / 7739
31
(HPO:0000687) Widely spaced teeth 24818348 IBIS 40 / 7739
32
(HPO:0000698) Conical tooth 18245410 IBIS 14 / 7739
33
(HPO:0000454) Flared nostrils 18245410 IBIS 11 / 7739
34
(HPO:0000445) Wide nose 18245410 IBIS 190 / 7739
35
(HPO:0001999) Abnormal facial shape 18245410 IBIS 169 / 7739
36
(HPO:0009931) Enlarged naris 26023658 IBIS 1 / 7739
37
(HPO:0000692) Misalignment of teeth 26023658 IBIS 18 / 7739
38
(HPO:0002680) J-shaped sella turcica 26023658; 24818348 IBIS 15 / 7739
39
(HPO:0010808) Protruding tongue 26633932; 18245410 IBIS 28 / 7739
40
(HPO:0200095) Anterior open bite 26023658 IBIS 8 / 7739
41
(HPO:0002788) Recurrent upper respiratory tract infections Frequent [IBIS] 26633932; 18245410; 18038146 IBIS 31 / 7739
42
(HPO:0000242) Parietal bossing 16918195 IBIS 11 / 7739
43
(HPO:0000293) Full cheeks 18245410 IBIS 85 / 7739
44
(HPO:0007807) Optic nerve compression 18245410 IBIS 6 / 7739
45
(HPO:0000546) Retinal degeneration 18038146 IBIS 61 / 7739
46
(HPO:0000529) Progressive visual loss 18245410 IBIS 54 / 7739
47
(HPO:0000479) Abnormality of the retina 18245410 IBIS 74 / 7739
48
(HPO:0007675) Progressive night blindness 16918195 IBIS 4 / 7739
49
(HPO:0007994) Peripheral visual field loss 18038146 IBIS 13 / 7739
50
(HPO:0001085) Papilledema 18038146 IBIS 31 / 7739
51
(HPO:0001488) Bilateral ptosis 16918195 IBIS 42 / 7739
52
(HPO:0000510) Rod-cone dystrophy Frequent [Orphanet] 16918195 IBIS 266 / 7739
53
(HPO:0000591) Abnormality of the sclera 18245410 IBIS 3 / 7739
54
(HPO:0000405) Conductive hearing impairment 18038146 IBIS 164 / 7739
55
(HPO:0004452) Abnormality of the middle ear ossicles 18038146 IBIS 26 / 7739
56
(HPO:0000365) Hearing impairment Frequent [IBIS] Very frequent [Orphanet] 26633932; 18245410; 18038146 IBIS 539 / 7739
57
(HPO:0008513) Bilateral conductive hearing impairment 24818348 IBIS 11 / 7739
58
(HPO:0000403) Recurrent otitis media Frequent [IBIS] 26633932; 18245410; 18038146 IBIS 61 / 7739
59
(HPO:0009748) Large earlobe 18038146 IBIS 27 / 7739
60
(HPO:0001730) Progressive hearing impairment 18245410 IBIS 29 / 7739
61
(HPO:0002376) Developmental regression 18245410 IBIS 74 / 7739
62
(HPO:0010535) Sleep apnea 18245410 IBIS 24 / 7739
63
(HPO:0000752) Hyperactivity 18038146 IBIS 140 / 7739
64
(HPO:0002870) Obstructive sleep apnea 16918195; 18038146 IBIS 16 / 7739
65
(HPO:0002344) Progressive neurologic deterioration 26633932; 18038146 IBIS 27 / 7739
66
(HPO:0002069) Generalized tonic-clonic seizures 18038146 IBIS 96 / 7739
67
(HPO:0000718) Aggressive behavior 18038146 IBIS 109 / 7739
68
(HPO:0011342) Mild global developmental delay 24818348 IBIS 10 / 7739
69
(HPO:0000750) Delayed speech and language development 18038146 IBIS 197 / 7739
70
(HPO:0001288) Gait disturbance 18245410 IBIS 318 / 7739
71
(HPO:0001250) Seizures Frequent [Orphanet] 26023658; 18038146 IBIS 1245 / 7739
72
(HPO:0002650) Scoliosis 18038146 IBIS 705 / 7739
73
(HPO:0001822) Hallux valgus 24818348 IBIS 70 / 7739
74
(HPO:0008430) Anterior beaking of lumbar vertebrae 26023658; 16918195 IBIS 5 / 7739
75
(HPO:0001385) Hip dysplasia Frequent [IBIS] Frequent [Orphanet] 18038146 IBIS 242 / 7739
76
(HPO:0008417) Vertebral hypoplasia 16918195 IBIS 6 / 7739
77
(HPO:0003312) Abnormal form of the vertebral bodies 18245410 IBIS 172 / 7739
78
(HPO:0001371) Flexion contracture 18245410 IBIS 220 / 7739
79
(HPO:0001771) Achilles tendon contracture 18245410 IBIS 27 / 7739
80
(HPO:0002808) Kyphosis Occasional [Orphanet] 26023658; 18038146 IBIS 289 / 7739
81
(HPO:0001387) Joint stiffness Frequent [IBIS] Occasional [Orphanet] 26023658; 18245410; 24818348; 16918195; 18038146 IBIS 322 / 7739
82
(HPO:0003040) Arthropathy 18038146 IBIS 19 / 7739
83
(HPO:0003300) Ovoid vertebral bodies 16918195 IBIS 21 / 7739
84
(HPO:0010656) Abnormal epiphyseal ossification 18245410 IBIS 1 / 7739
85
(HPO:0000889) Abnormality of the clavicle 18245410 IBIS 3 / 7739
86
(HPO:0001376) Limitation of joint mobility Frequent [IBIS] 18245410; 18038146 IBIS 27 / 7739
87
(HPO:0006119) Proximal tapering of metacarpals 26023658; 24818348 IBIS 3 / 7739
88
(HPO:0002828) Multiple joint contractures 26633932; 18245410; 24818348 IBIS 16 / 7739
89
(HPO:0001171) Split hand 26023658 IBIS 72 / 7739
90
(HPO:0000772) Abnormality of the ribs 26023658; 24818348 IBIS 146 / 7739
91
(HPO:0000924) Abnormality of the skeletal system Frequent [IBIS] 26633932; 16918195; 18038146 IBIS 114 / 7739
92
(HPO:0006012) Widened metacarpal shaft 16918195 IBIS 3 / 7739
93
(HPO:0001155) Abnormality of the hand 18245410 IBIS 54 / 7739
94
(HPO:0000943) Dysostosis multiplex Frequent [IBIS] 18245410; 18038146 IBIS 22 / 7739
95
(HPO:0100774) Hyperostosis 18245410 IBIS 17 / 7739
96
(HPO:0002673) Coxa valga 16918195 IBIS 57 / 7739
97
(HPO:0000023) Inguinal hernia Frequent [IBIS] 26023658; 26633932; 18245410; 18038146 IBIS 181 / 7739
98
(HPO:0001537) Umbilical hernia Frequent [IBIS] Frequent [Orphanet] 26633932; 24818348; 24818348; 16918195; 18038146 IBIS 206 / 7739
99
(HPO:0002014) Diarrhea 18038146 IBIS 225 / 7739
100
(HPO:0001538) Protuberant abdomen Frequent [IBIS] 26023658; 18245410; 24818348; 16918195; 18038146 IBIS 36 / 7739
101
(HPO:0001433) Hepatosplenomegaly Frequent [IBIS] 26023658; 26633932; 18245410; 24818348; 16918195; 18038146 IBIS 78 / 7739
102
(HPO:0008897) Postnatal growth retardation 26023658 IBIS 113 / 7739
103
(HPO:0004322) Short stature Frequent [IBIS] Very frequent [Orphanet] 26023658; 18245410; 24818348; 16918195; 18038146 IBIS 1232 / 7739
104
(HPO:0100679) Lack of skin elasticity 18245410; 16918195 IBIS 29 / 7739
105
(HPO:0000988) Skin rash 16918195 IBIS 98 / 7739
106
(HPO:0200034) Papule 18245410; 16918195; 18038146 IBIS 12 / 7739
107
(HPO:0000956) Acanthosis nigricans 16918195 IBIS 54 / 7739
108
(HPO:0001072) Thickened skin Very frequent [Orphanet] 26023658; 18245410; 16918195 IBIS 87 / 7739
109
(HPO:0011369) Mongolian blue spot 18038146 IBIS 1 / 7739
110
(HPO:0002208) Coarse hair 18038146 IBIS 58 / 7739
111
(HPO:0001050) Plethora 18038146 IBIS 3 / 7739
112
(HPO:0000998) Hypertrichosis 24818348; 18038146 IBIS 52 / 7739
113
(HPO:0001646) Abnormality of the aortic valve 18245410; 16918195 IBIS 55 / 7739
114
(HPO:0001640) Cardiomegaly 18245410; 16918195 IBIS 81 / 7739
115
(HPO:0001635) Congestive heart failure Frequent [IBIS] 18245410; 16918195 IBIS 232 / 7739
116
(HPO:0001653) Mitral regurgitation 24818348; 16918195 IBIS 64 / 7739
117
(HPO:0001714) Ventricular hypertrophy 18245410 IBIS 20 / 7739
118
(HPO:0001659) Aortic regurgitation 16918195 IBIS 36 / 7739
119
(HPO:0001626) Abnormality of the cardiovascular system Frequent [IBIS] Frequent [Orphanet] 16918195 IBIS 73 / 7739
120
(HPO:0001654) Abnormality of the heart valves Frequent [IBIS] 26633932; 18245410; 18038146 IBIS 49 / 7739
121
(HPO:0001633) Abnormality of the mitral valve 18245410 IBIS 69 / 7739
122
(HPO:0001634) Mitral valve prolapse 16918195 IBIS 69 / 7739
123
(HPO:0001638) Cardiomyopathy Frequent [IBIS] 18038146 IBIS 192 / 7739
124
(HPO:0011020) Abnormality of mucopolysaccharide metabolism Very frequent [IBIS] Very frequent [Orphanet] 18038146 IBIS 17 / 7739
125
(HPO:0003155) Elevated alkaline phosphatase 26023658 IBIS 52 / 7739
126
(HPO:0002777) Tracheal stenosis Occasional [Orphanet] 18245410; 18038146 IBIS 35 / 7739
127
(HPO:0005952) Decreased pulmonary function 18245410 IBIS 8 / 7739
128
(HPO:0006532) Recurrent pneumonia 18245410 IBIS 48 / 7739
129
(HPO:0002786) Tracheobronchomalacia 18245410 IBIS 4 / 7739
130
(HPO:0002781) Upper airway obstruction 26633932; 16918195; 18038146 IBIS 7 / 7739
131
(HPO:0005483) Abnormality of the epiglottis 18245410 IBIS 1 / 7739
132
(HPO:0006543) Cardiorespiratory arrest 18038146 IBIS 11 / 7739
133
(HPO:0002880) Respiratory difficulties 18245410 IBIS 15 / 7739
134
(HPO:0002109) Abnormality of the bronchi 18245410 IBIS 6 / 7739
135
(HPO:0001602) Laryngeal stenosis 18038146 IBIS 21 / 7739
136
(HPO:0002098) Respiratory distress 16918195 IBIS 75 / 7739
137
(HPO:0002094) Dyspnea 18245410; 18038146 IBIS 132 / 7739
138
(HPO:0001609) Hoarse voice 6816147 IBIS 34 / 7739
139
(HPO:0002779) Tracheomalacia 18038146 IBIS 26 / 7739
140
(HPO:0100765) Abnormality of the tonsils 18245410 IBIS 10 / 7739
141
(HPO:0001334) Communicating hydrocephalus Rare [IBIS] 18038146 IBIS 32 / 7739
142
(OMIM) No corneal opacities 16918195 IBIS 2 / 7739
143
(OMIM) Pseudotumor cerebri 16918195 IBIS 3 / 7739
144
(HPO:0040083) Toe walking 18245410 IBIS 15 / 7739
145
(MedDRA:10054761) Increased viscosity of bronchial secretion 18245410 IBIS 1 / 7739
146
(OMIM) Mucoid nasal discharge 18038146 IBIS 1 / 7739
147
(Orphanet:3780) Limited opening of the mouth 18245410 IBIS 1 / 7739
148
(HPO:0002341) Cervical cord compression 18038146 IBIS 3 / 7739
149
(HPO:0000238) Hydrocephalus 16918195 IBIS 278 / 7739
150
(HPO:0002318) Cervical myelopathy 18038146 IBIS 10 / 7739
151
(MedDRA:10001229) Adenoidal hypertrophy 18245410 IBIS 3 / 7739
152
(HPO:0002878) Respiratory failure 16918195 IBIS 57 / 7739
153
(HPO:3000033) Abnormality of nasopharyngeal adenoids 18245410; 18038146 IBIS 4 / 7739
154
(HPO:0002180) Neurodegeneration 16918195 IBIS 31 / 7739
155
(HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 18245410 IBIS 187 / 7739
156
(HPO:0040115) Abnormality of the Eustachian tube 18038146 IBIS 2 / 7739
157
(OMIM) Hypertrophic tonsils 18245410 IBIS 2 / 7739
158
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 18038146 IBIS 949 / 7739
159
(HPO:0030148) Heart murmur 26023658; 18245410; 24818348; 16918195 IBIS 29 / 7739
160
(OMIM) Chest wall rigidity 18245410 IBIS 2 / 7739
161
(MedDRA:10007697) Carpal tunnel syndrome 18245410; 16918195; 18038146 IBIS 16 / 7739
162
(MedDRA:10041235) Snoring 18245410 IBIS 8 / 7739
163
(HPO:0040090) Abnormality of the tympanic membrane 18038146 IBIS 3 / 7739
164
(MedDRA:10071730) Increased viscosity of nasal secretion 18245410 IBIS 1 / 7739

Associated genes:

IDS;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
IDS rs104894853 pathogenic RCV000011233.7
IDS rs104894856 pathogenic RCV000011235.7
IDS rs104894860 pathogenic RCV000011236.7
IDS rs104894861 pathogenic RCV000011240.7
IDS rs104894862 pathogenic RCV000011248.4
IDS rs113993946 pathogenic RCV000180473.1
IDS rs113993946 pathogenic RCV000180472.1
IDS rs113993948 pathogenic RCV000011237.4
IDS rs113993949 pathogenic RCV000177016.1
IDS rs199422227 pathogenic RCV000011232.3
IDS rs199422228 pathogenic RCV000011234.5
IDS rs199422229 pathogenic RCV000011239.3
IDS rs199422230 pathogenic RCV000011241.6
IDS rs199422231 pathogenic RCV000180471.1
IDS rs398123247 pathogenic RCV000173081.1
IDS rs398123248 likely pathogenic RCV000180470.1
IDS rs398123249 pathogenic RCV000177014.1
IDS rs398123250 pathogenic RCV000178730.1
IDS rs398123251 pathogenic RCV000178731.1
IDS rs483352904 pathogenic RCV000011242.3
IDS rs483352905 pathogenic RCV000011247.3
IDS rs797044502 pathogenic RCV000180106.1
IDS rs797044671 pathogenic RCV000175548.1
IDS rs797044703 pathogenic RCV000177015.1
IDS rs797044750 pathogenic RCV000178732.1
IDS rs797044770 pathogenic RCV000179274.1
IDS rs797044782 pathogenic RCV000180107.1

Additional Information:

Description: (OMIM) Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts ...
Diagnosis OMIM Tonnesen et al. (1983) found that cross-correction between the 2 cell populations of the Hunter syndrome heterozygote is inhibited by fructose 1-phosphate or mannose 6-phosphate. Intercellular uptake of lysosomal enzymes in cultured fibroblasts is prevented by addition of ...
Clinical Description OMIM MPS II is a multisystem disorder. Clinical manifestations include severe airway obstruction, skeletal deformities, cardiomyopathy, and, in most patients, neurologic decline. Death usually occurs in the second decade of life, although some patients with less severe disease have ...
Genotype-Phenotype Correlations OMIM In a review, Muenzer et al. (2009) noted that a paucity of common and recurrent mutations in the IDS gene makes genotype/phenotype correlations difficult. They stated that complete deletions and complex rearrangements of the IDS gene always result ...
Molecular genetics OMIM Wilson et al. (1991) found a deletion or gene rearrangement in 7 of 23 Hunter patients of Australian and British origin. In 2 of 14 unrelated German MPS II patients, structural alteration of the IDS gene was found ...
Population genetics OMIM Schaap and Bach (1980) reported a frequency of approximately 1 in 34,000 males born in Israel between 1967 and 1975.

In a questionnaire study in the United Kingdom, Young and Harper (1982) estimated the frequency of ...

Diagnosis GeneReviews The diagnosis of mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) cannot be made on clinical findings alone. The physical findings vary widely, depending on disease severity. ...
Clinical Description GeneReviews Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) has multisystem involvement with significant variability in both age of onset and rate of progression. ...
Genotype-Phenotype Correlations GeneReviews Outside of the following two groups neither the amount of I2S protein nor its enzyme activity can be correlated with phenotypic severity. ...
Differential Diagnosis GeneReviews The differential diagnosis for mucopolysaccharidosis type II (MPS II, or Hunter syndrome) essentially includes all of the other MPS disorders, given the significant overlap of clinical presentation and radiologic findings (see MPS I)....
Management GeneReviews To establish the extent of disease in an individual diagnosed with mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome), the following evaluations are recommended:...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....