Disease #07235 (leukodystrophy (leukodystrophy))

Official abbreviation leukodystrophy
Name leukodystrophy
OMIM ID -
Inheritance -
Individuals reported having this disease 6
Phenotype entries for this disease 6
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2026-03-03 15:05:03 +01:00 (CET)
Date last edited N/A


Individuals

6 entries on 1 page. Showing entries 1 - 6.
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00473090 Fam16176Pat211 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - leukodystrophy onset 18-mo with abnormal gait; Spastic gait; Flat foot; Brain MRI revealed delayed myelination or hypomyelination suggestive of Leukodystrophies; Hx of Hypothyroidism. - GJC2 1 1 Johan den Dunnen
00473361 Fam206625Pat631 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - leukodystrophy Consanguineous parents ,sporadic case, onset 6y, lower and upper muscle weakness, foot drop , dysarthria, bulbar dysfunction, distal atrophy, gait abnormality, irritability and aggression, EDX normal report with central weakness impression , leuckodystrophy with thalamic involvement and mcp involvement reported in brain MRI - CHMP2B 1 1 Johan den Dunnen
00473368 Fam207010Pat642 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - leukodystrophy bulbar dysfunction, slurred speech, ataxia, leuckodystrophy,demyelination sensorimotor polyneuropathy, scoliosis, ataxic gait, pes cavus, proximal muscle weakness and increased DTR - PI4KA 1 1 Johan den Dunnen
00473673 Fam9511735Pat1094 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F yes Iran - - - - - leukodystrophy Developmental delay, global; Low vision; Impaired chewing; Spasticity; lower limbs deformity; Difficult urination and Constipation. Brain MRI findings revealed mild to moderate ventriculomegaly and suggestive of Canavan disease and mitochondrial disorders as differential diagnosis - - - 1 Johan den Dunnen
00473680 Fam9513295Pat1101 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F yes Iran - - - - - leukodystrophy Hypotonia; Development regression; Mental retardation, severe; Strabismus; Ptosis, bilateral; No speech; Cloudy cornea; Positive history of hospitalization due to fever and leucopenia. Brain MRI showed prominence of lateral and 3th ventricles hypersignal probably due to periventricular leukoencephalopathy. Decreased serum arylsulphatase A - MCOLN1 1 1 Johan den Dunnen
00473961 Fam9910667Pat1493 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M no Iran - - - - - leukodystrophy Psychomotor regression & retardation since the age of 10-month; Hypotonia; No speech; No standing; No dysmorphic features; Mild strabismus; Small head size; Brain MRI suggestive of parenchymal volume loss, neurodegenerative disorder and leukodystrophy. - PRX 1 1 Johan den Dunnen
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