| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| HP:0001171 | Ectrodactyly (hands) | |
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| HP:0001178 | Claw hand deformities (in severe cases) | |
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| HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
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| HP:0001265 | Hyporeflexia | |
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| HP:0001270 | Motor retardation | |
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| HP:0001284 | Areflexia | |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001291 | Abnormality of the cranial nerves | "Abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem." [HPO:curators.] |
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| HP:0001319 | Neonatal hypotonia | "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] |
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| HP:0001425 | Heterogeneous | |
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| HP:0001761 | Pes cavus | |
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| HP:0001765 | Hammer toes | |
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| HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
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| HP:0002751 | Kyphoscoliosis | |
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| HP:0002922 | Increased CSF protein | |
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| HP:0002936 | Distal sensory impairment | |
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| HP:0003376 | Steppage gait | "An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again." [HPO:curators] |
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| HP:0003380 | Decreased number of myelinated fibers | "A loss of myelinated nerve fibers (in general, this finding can be observed on nerve biopsy)." [HPO:curators] |
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| HP:0003382 | Hypertrophic nerve changes | |
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| HP:0003383 | Onion bulb formations on nerve biopsy | |
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| HP:0003431 | Decreased motor nerve conduction velocity (NCV) | |
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| HP:0003481 | Segmental demyelination/remyelination | |
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| HP:0003484 | Upper limb involvement may occur later | |
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| HP:0003577 | Onset at birth | |
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| HP:0003593 | Early onset | |
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| HP:0003621 | Juvenile onset | |
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| HP:0003693 | Distal amyotrophy | "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] |
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| HP:0003828 | Variable expressivity | |
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| HP:0007182 | Hypomyelination on nerve biopsy | |
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| HP:0009027 | Foot dorsiflexor weakness | |
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| HP:0009830 | Peripheral neuropathy | "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:curators] |
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| HP:0010871 | Sensory ataxia | "Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms." [HPO:probinson] |
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