X-linked immunoneurologic disorder

General Information (adopted from Orphanet):

Synonyms, Signs: woods-black-norbury syndrome
Number of Symptoms 28
OrphanetNr: 2571
OMIM Id: 300076
ICD-10: D82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 5 cases [Orphanet]
Inheritance: X-linked dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
(HPO:0000079) Abnormality of the urinary system Frequent [Orphanet] 88 / 7739
2
(HPO:0000009) Functional abnormality of the bladder 2 / 7739
3
(HPO:0000662) Nyctalopia 92 / 7739
4
(HPO:0000504) Abnormality of vision Frequent [Orphanet] 22 / 7739
5
(HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
6
(HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
7
(HPO:0012638) Abnormality of nervous system physiology Frequent [Orphanet] 12 / 7739
8
(HPO:0001258) Spastic paraplegia 97 / 7739
9
(HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
10
(HPO:0001347) Hyperreflexia Frequent [Orphanet] 363 / 7739
11
(HPO:0004374) Hemiplegia/hemiparesis Frequent [Orphanet] 158 / 7739
12
(HPO:0001348) Brisk reflexes 15 / 7739
13
(HPO:0001518) Small for gestational age 107 / 7739
14
(HPO:0008348) Immunoglobulin IgG2 deficiency 5 / 7739
15
(HPO:0010701) Abnormal immunoglobulin level Frequent [Orphanet] 49 / 7739
16
(HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
17
(HPO:0002103) Abnormality of the pleura Occasional [Orphanet] 58 / 7739
18
(HPO:0006830) Severe neonatal hypotonia in males 1 / 7739
19
(HPO:0009073) Progressive proximal muscle weakness 8 / 7739
20
(HPO:0003198) Myopathy Occasional [Orphanet] 151 / 7739
21
(OMIM) Muscle weakness, proximal, slowly progressive 2 / 7739
22
(OMIM) IgG2 deficiency 1 / 7739
23
(OMIM) Static reduced night vision 1 / 7739
24
(OMIM) Complex hereditary spastic paraplegia in females 1 / 7739
25
(HPO:0003811) Neonatal death 44 / 7739
26
(HPO:0011420) Death Frequent [Orphanet] 184 / 7739
27
(OMIM) Low birth weight in males 1 / 7739
28
(HPO:0001423) X-linked dominant inheritance 69 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Woods et al. (1995) described a kindred in which 5 males in 3 sibships across 2 generations connected through females died in the neonatal period of severe hypotonia. All 5 males were of low birth weight. In this ...