Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
Name: |
Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
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Description: |
Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome is a rare, genetic, neurological disorder characterized by early-onset, progressive ataxia, white matter hypomyelination and cerebellar atrophy on brain MRI imaging, and various dental abnormalities, including hypodontia, delayed primary tooth eruption, complete retention of the primary maxillary central incisors and abnormal shape of the permanent maxillary incisors.
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ORPHAcode: |
137639
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Synonyms: |
Ataxia-delayed dentition-hypomyelination syndrome
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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