| 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:0000188 | Short upper lip | |
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| HP:0000212 | Gingival hyperplasia | |
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| HP:0000278 | Retrognathia | |
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| HP:0000294 | Low frontal hairline | "A condition in which the scalp hair is present at lower than usual areas of the forehead." [HPO:curators] |
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| HP:0000316 | Hypertelorism | |
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| HP:0000322 | Short philtrum | |
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| HP:0000347 | Mandibular hypoplasia | "Underdevelopment of the mandible." [HPO:curators] |
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| HP:0000483 | Astigmatism | |
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| HP:0000490 | Deep set eyes | |
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| HP:0000512 | Abnormal electroretinogram | "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." [HPO:curators] |
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| HP:0000540 | Hypermetropia | |
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| HP:0000545 | Myopia | |
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| HP:0000565 | Esotropia | |
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| HP:0000648 | Optic atrophy | |
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| HP:0000649 | Abnormality of vision evoked potentials | |
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| HP:0000750 | Impaired language development | |
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| HP:0001212 | Prominent fingertip pads | "A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist." [HPO:curators] |
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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:0001265 | Hyporeflexia | |
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| HP:0001272 | Cerebellar atrophy | |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [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:0002023 | Anal atresia | "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] |
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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:0002509 | Limb hypertonia | |
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| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
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| HP:0003676 | Progressive disorder | |
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| HP:0005484 | Microcephaly, postnatal | |
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| HP:0007371 | Atrophy/Degeneration of the corpus callosum | "The presence of atrophy (wasting) of the corpus callosum." [HPO:sdoelken] |
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| HP:0008755 | Laryngotracheomalacia | |
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| HP:0008936 | Muscular hypotonia of the trunk | "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk." [HPO:curators] |
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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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