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:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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HP:0000494 | Downward slanting palpebral fissures | |
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HP:0001249 | Mental retardation | |
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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:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
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HP:0001265 | Hyporeflexia | |
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HP:0001270 | Motor retardation | |
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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:0001302 | Pachygyria | "A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex." [HPO:curators] |
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HP:0001321 | Cerebellar hypoplasia | |
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HP:0001357 | Plagiocephaly | "An asymmetric head shape often resulting from premature closure of only one of the coronal sutures." [HPO:curators] |
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HP:0001760 | Abnormality of the feet | "An abnormality of the feet (foot deformity) is a disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, Congenital vertical talus (rocker bottom foot) & etc." [HPO:curators] |
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HP:0001761 | Pes cavus | |
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HP:0001999 | Facial dysmorphism | |
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HP:0002079 | Hypoplasia of the corpus callosum | "Underdevelopment of the corpus callosum." [HPO:curators] |
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HP:0002359 | Frequent falls | |
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HP:0002365 | Hypoplasia of the brainstem | |
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HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
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HP:0002510 | Spastic tetraplegia | "Spastic paralysis affecting all four limbs." [HPO:curators] |
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HP:0002515 | Waddling gait | |
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HP:0002936 | Distal sensory impairment | |
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HP:0003431 | Decreased motor nerve conduction velocity (NCV) | |
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HP:0003445 | EMG shows neuropathic changes | |
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HP:0003474 | Sensory impairment | |
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HP:0003477 | Axonal neuropathy | |
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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:0003812 | Phenotypic variability | |
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HP:0007269 | Spinal muscular atrophy | "Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [HPO:curators] |
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HP:0007359 | Partial seizures | "Recurrent partial `seizures` (HP:0001250). In a partial seizure, the electrical disturbance is limited to one part or side of the brain. That is, partial epilepsies are epileptic disorders in which clinical or laboratory findings disclose a localized origin of seizures." [HPO:curators] |
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HP:0008956 | Proximal lower limb muscle atrophy | "Muscular atrophy affecting proximally located muscles of the legs." [HPO:curators] |
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HP:0008994 | Proximal muscle weakness in lower limbs | "A lack of strength of the proximal muscles of the legs." [HPO:curators] |
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HP:0009046 | Difficulty walking, running, climbing stairs | |
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HP:0010602 | Type 2 muscle fiber predominance | "An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy)." [HPO:curators] |
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HP:0011220 | Prominent forehead | "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436] |
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HP:0011463 | Childhood onset | "Onset of disease at the age of between 1 and 5 years." [DDD:hfirth] |
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HP:0011808 | Decreased patellar reflex | "Decreased intensity of the patellar reflex (also known as the knee jerk reflex)." [HPO:probinson] |
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HP:0200055 | Small hands | |
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