| 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:0000297 | Facial hypotonia | |
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| HP:0000316 | Hypertelorism | |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000582 | Upslanting palpebral fissures | |
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| HP:0000648 | Optic atrophy | |
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| HP:0000687 | Widely spaced teeth | |
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| HP:0001249 | Mental retardation | |
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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: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:0001272 | Cerebellar atrophy | |
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| HP:0001298 | Encephalopathy | |
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| HP:0001308 | Tongue fasciculations | |
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| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| HP:0002019 | Constipation | |
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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:0002171 | Gliosis | |
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| HP:0002376 | Developmental regression | |
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| HP:0002506 | Diffuse cerebral atrophy | |
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| HP:0002510 | Spastic tetraplegia | "Spastic paralysis affecting all four limbs." [HPO:curators] |
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| HP:0002529 | Neuropathology shows neuronal loss in basal ganglia, brainstem, and cerebellum | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0002804 | Arthrogryposis multiplex congenita | |
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| HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
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| HP:0003429 | Hypomyelination | |
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| HP:0003828 | Variable expressivity | |
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| HP:0005484 | Microcephaly, postnatal | |
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| HP:0006829 | Severe muscular hypotonia | "A severe degree of muscular hypotonia characterized by markedly reduced muscle tone." [HPO:curators] |
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| HP:0007366 | Atrophy/Degeneration affecting the brainstem | |
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| HP:0011968 | Feeding difficulties | "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
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| HP:0045075 | Sparse eyebrow | "Decreased density/number of eyebrow hairs." [HPO:skoehler] |
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