HPO ID | HPO Term |
---|---|
HP:0002500 | Abnormal cerebral white matter morphology |
HP:0001344 | Absent speech |
HP:0003690 | Limb muscle weakness |
HP:0001250 | Seizure |
HP:0002747 | Respiratory insufficiency due to muscle weakness |
HP:0012391 | Hyporeflexia of upper limbs |
HP:0002312 | Clumsiness |
HP:0000006 | Autosomal dominant inheritance |
HP:0002355 | Difficulty walking |
HP:0003390 | Sensory axonal neuropathy |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: August 19, 2024