| 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:0000407 | Hearing loss, sensorineural | "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] |
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| HP:0000408 | Hearing loss, sensorineural, progressive | |
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| HP:0000478 | Abnormality of the eyes | "Any abnormality of the `eyes` (FMA:54448), including location, spacing, and intraocular abnormalities." [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:0001288 | Gait disturbance | "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators] |
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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:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002066 | Gait ataxia | "Impairment of the ability to coordinate the movements required for normal walking." [HPO:curators] |
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| HP:0002086 | Respiratory abnormality | |
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| HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
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| HP:0002715 | Immunological abnormality | |
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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:0003378 | Axonal degeneration/regeneration on nerve biopsy | |
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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:0003449 | Cold-induced muscle cramps | |
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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:0003587 | Insidious onset | |
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| HP:0003593 | Early onset | |
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| HP:0003621 | Juvenile onset | |
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| HP:0003677 | Slow progression | |
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| HP:0003690 | Limb muscle weakness | "Weakness of the muscles of the arms and legs." [HPO:curators] |
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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:0004336 | Myelin outfoldings | |
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| HP:0007182 | Hypomyelination on nerve biopsy | |
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| HP:0007351 | Upper limb postural tremor | |
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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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| HP:0011096 | Peripheral demyelination | "A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [HPO:probinson] |
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| HP:0012074 | Tonic pupil | "An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation." [HPO:probinson] |
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