| HP:0000006 | Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| HP:0000219 | Thin upper lip | |
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| HP:0000311 | Round face | "An unusually round appearance of the face." [HPO:curators] |
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| HP:0000691 | Microdontia | |
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| HP:0000821 | Hypothyroidism | |
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| HP:0001159 | Syndactyly | "Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are refered to as "Symphalangism"." [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:0001279 | Syncope | "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. This term refers to an abnormally increased disposition to syncope." [HPO:curators] |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001629 | Ventricular septal defect | "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators] |
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| HP:0001636 | Tetralogy of Fallot | "A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present." [HPO:curators] |
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| HP:0001640 | Cardiomegaly | |
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| HP:0001643 | Patent ductus arteriosus | |
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| HP:0001645 | Sudden cardiac death | |
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| HP:0001655 | Patent foramen ovale | |
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| HP:0001657 | Prolonged QT interval on EKG | |
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| HP:0001699 | Sudden death | |
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| HP:0001943 | Hypoglycemia | "A lower than normal level of blood glucose." [HPO:curators] |
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| HP:0002090 | Pneumonia | |
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| HP:0002719 | Recurrent infections | |
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| HP:0002901 | Hypocalcemia | "A level of blood calcium that is lower than normal." [HPO:curators] |
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| HP:0004308 | Ventricular arrhythmia | |
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| HP:0005110 | Atrial fibrillation | |
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| HP:0005280 | Depressed nasal root and bridge | |
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| HP:0012232 | Shortened QT interval | "Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)." [HPO:probinson] |
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| HP:0012272 | J wave | "The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point." [HPO:probinson, pmid:19561994] |
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| HP:0012387 | Bronchitis | "Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi." [HPO:probinson] |
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| HP:0012725 | Cutaneous syndactyly | "A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits." [HPO:probinson] |
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