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Parent Node:
expandinherited neurodegenerative disorder (MONDO:0024237)
..Starting node
..expandleukoencephalopathy-metaphyseal chondrodysplasia syndrome ()

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Further data from MedGen, OMIM,ClinVar, CTD
Term ID:10394
Name:leukoencephalopathy-metaphyseal chondrodysplasia syndrome
Definition:The association of leukoencephalopathy and metaphyseal chondrodysplasia has been reported in four men from a three-generation family. Onset manifests by spastic paraplegia at the age of 2, followed by tremor, ataxia, optic atrophy, and spastic tetraparesis. Transmission is X-linked and the gene responsible of the disease may be located at Xq25-q27.
Alternative IDs:300660
ParentIDs:
TreeNumbers:
Synonyms:leukoencephalopathy with metaphyseal chondrodysplasia; leukoencephalopathy with metaphyseal chondrodysplasia; LKMCD; LKMCD
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM: 300660;
MSeqDR LSDB:  
Genes: TECPR2;
Phenotypes
1 HP:0001419X-linked recessive inheritance
2 HP:0003621Juvenile onset
3 HP:0002500Abnormality of the cerebral white matter
4 HP:0000463Anteverted nares
5 HP:0003487Babinski sign
6 HP:0005280Depressed nasal bridge
7 HP:0002506Diffuse cerebral atrophy
8 HP:0001288Gait disturbance
9 HP:0000666Horizontal nystagmus
10 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
11 HP:0001249Intellectual disability
12 HP:0002352Leukoencephalopathy
13 HP:0000272Malar flattening
14 HP:0005871Metaphyseal chondrodysplasia
15 HP:0003677Slow progression
16 HP:0001258Spastic paraplegia
17 HP:0001337Tremor
18 HP:0000572Visual loss
Disease Causing ClinVar Variants
MSeqDR Portal