| 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: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: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:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001257 | Spasticity | "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [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:0001266 | Choreoathetosis | |
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| HP:0001272 | Cerebellar atrophy | |
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| HP:0001298 | Encephalopathy | |
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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:0001332 | Dystonia | "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators] |
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| HP:0001508 | Failure to thrive | |
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| HP:0001522 | Death in infancy | |
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| HP:0001733 | Pancreatitis | |
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| HP:0001947 | Renal tubular acidosis | |
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| HP:0001992 | Organic aciduria | |
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| HP:0002059 | Cerebral atrophy | |
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| HP:0002079 | Hypoplasia of the corpus callosum | "Underdevelopment of the corpus callosum." [HPO:curators] |
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| HP:0002119 | Ventriculomegaly | |
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| HP:0002161 | Hyperlysinemia | |
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| HP:0002415 | Leukodystrophy | |
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| HP:0002445 | Tetraplegia | |
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| HP:0002448 | Encephalopathy, progressive | |
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| HP:0002470 | Cerebellar ataxia, nonprogressive | |
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| HP:0002478 | Progressive spastic quadriplegia | |
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| HP:0003206 | Decreased activity of NADPH oxidase | |
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| HP:0003234 | Decreased plasma carnitine | |
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| HP:0004897 | lactic acidosis may occur with stress or infection | |
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| HP:0008315 | Decreased plasma total and free carnitine | |
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| HP:0010536 | Central sleep apnea | "Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles." [HPO:curators] |
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| HP:0011951 | Aspiration pneumonia | "Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract." [HPO:probinson] |
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| HP:0012751 | Abnormal basal ganglia MRI signal intensity | "A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia." [UToronto:htrang] |
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| HP:0100704 | Cortical visual impairment | "A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye." [HPO:probinson] |
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