Leukoencephalopathy - metaphyseal chondrodysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: LKMCD
Number of Symptoms 23
OrphanetNr: 83629
OMIM Id: 300660
ICD-10: G11.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic neurodegenerative disease
 -Rare genetic disease
Rare neurodegenerative disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000463) Anteverted nares 305 / 7739
2
(HPO:0000272) Malar flattening 277 / 7739
3
(HPO:0005280) Depressed nasal bridge 381 / 7739
4
(HPO:0000572) Visual loss 272 / 7739
5
(HPO:0000666) Horizontal nystagmus 32 / 7739
6
(HPO:0001249) Intellectual disability 1089 / 7739
7
(HPO:0001347) Hyperreflexia 363 / 7739
8
(HPO:0003487) Babinski sign 179 / 7739
9
(HPO:0001337) Tremor 200 / 7739
10
(HPO:0001258) Spastic paraplegia 97 / 7739
11
(HPO:0001288) Gait disturbance 318 / 7739
12
(HPO:0005871) Metaphyseal chondrodysplasia 10 / 7739
13
(OMIM) Broad knees 1 / 7739
14
(HPO:0001419) X-linked recessive inheritance 189 / 7739
15
(HPO:0002506) Diffuse cerebral atrophy 9 / 7739
16
(HPO:0003621) Juvenile onset 105 / 7739
17
(OMIM) Normal psychomotor development until age 2 to 3 years 1 / 7739
18
(HPO:0002500) Abnormality of the cerebral white matter 73 / 7739
19
(HPO:0003677) Slow progression 134 / 7739
20
(OMIM) Broad wrists 1 / 7739
21
(OMIM) Midface hypoplasia, mild 3 / 7739
22
(OMIM) Decreased bone mineralization 1 / 7739
23
(HPO:0002352) Leukoencephalopathy 32 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Neubauer et al. (2006) reported a 3-generation family from northern Germany in which 4 males had a disorder characterized by early-onset leukoencephalopathy associated with metaphyseal chondrodysplasia. Inheritance was consistent with an X-linked recessive pattern. The proband developed normally ...