| 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:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
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| HP:0000635 | Blue irides | |
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| HP:0000709 | Psychosis | "A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs." [HPO:curators] |
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| HP:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
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| HP:0000717 | Autism | |
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| HP:0000718 | Aggressive behavior | "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators] |
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| HP:0000722 | Obsessive-compulsive disorder | |
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| HP:0000737 | Irritability | |
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| HP:0000739 | Anxiety | |
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| HP:0000742 | Self-mutilation | |
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| HP:0000958 | Dry skin | |
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| HP:0000964 | Eczema | "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [HPO:curators] |
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| HP:0001010 | Hypopigmentation of the skin | |
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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:0001276 | Hypertonia | |
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| HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
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| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| HP:0001510 | Growth retardation | |
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| HP:0002017 | Nausea and vomiting | |
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| HP:0002286 | Light colored hair | |
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| HP:0002301 | Hemiplegia | "Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body." [HPO:curators] |
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| HP:0002333 | Motor deterioration | |
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| HP:0002354 | Memory impairment | |
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| HP:0002514 | Cerebral calcification | "The presence of calcification within brain structures." [HPO:curators] |
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| HP:0002686 | Prenatal maternal abnormality | |
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| HP:0004920 | Phenylpyruvic acidemia | |
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| HP:0004923 | hyperphenylalaninemia | |
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| HP:0005599 | Hair hypopigmentation | |
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| HP:0005982 | Phenylalanine hydroxylase deficiency | |
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| HP:0007018 | Attention deficit hyperactivity disorder | "Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [HPO:curators] |
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| HP:0007513 | Generalized hypopigmentation | |
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| HP:0010550 | Paraplegia | "Severe or complete weakness of both lower extremities with sparing of the upper extremities." [HPO:curators] |
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| HP:0010864 | Mental retardation, severe | "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson] |
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| HP:0100324 | Scleroderma | "A chronic autoimmune disease characterized by fibrosis (or hardening), vascular alterations, and autoantibodies." [HPO:sdoelken] |
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| HP:0100610 | Maternal hyperphenylalaninemia | |
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| HP:0100679 | Lack of skin elasticity | |
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| HP:0100716 | Autoagression | "Aggression towards oneself." [HPO:sdoelken] |
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| HP:0410066 | Increased level of hippuric acid in urine | "An increase in the level of hippuric acid in the urine." [PMID:19551947, PMID:22626821] |
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