| 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:0000253 | Microcephaly, progressive | "Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms." [HPO:curators] |
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| HP:0000280 | Coarse facial features | |
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| HP:0000293 | Full cheeks | |
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| HP:0000316 | Hypertelorism | |
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| HP:0000448 | Prominent nose | |
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| HP:0000455 | Broad nasal tip | |
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| HP:0000926 | Platyspondyly | |
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| HP:0000954 | Transverse palmar creases | "The presence of a single palmar crease (instead of the two palmar creases that are typically present)." [HPO:curators] |
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| HP:0001019 | Erythroderma | "An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever." [HPO:probinson] |
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| HP:0001156 | Brachydactyly | |
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| HP:0001216 | Delayed maturation/delayed ossification of carpal bones | |
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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:0001270 | Motor retardation | |
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| HP:0001407 | Hepatic cysts | |
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| HP:0001880 | Eosinophilia | "Increased count of eosinophile granulocytes in the blood." [HPO:sdoelken] |
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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:0002656 | Epiphyseal dysplasia | |
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| HP:0002673 | Coxa valga | "Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults)." [HPO:curators] |
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| HP:0002719 | Recurrent infections | |
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| HP:0002751 | Kyphoscoliosis | |
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| HP:0003083 | Dislocated radial head | "A dislocation of the head of the radius from its socket in the elbow joint." [HPO:curators] |
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| HP:0003090 | Small capital femoral epiphyses | |
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| HP:0003375 | Narrow greater sacrosciatic notches | "A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium." [HPO:curators] |
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| HP:0003498 | Short stature, disproportionate | |
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| HP:0004313 | Reduced immunoglobulin levels | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0008462 | Cervical instability | |
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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:0100255 | Metaphyseal dysplasia | "The presence of dysplastic regions in metaphyseal bones." [HPO:sdoelken] |
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