| 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:0000028 | Cryptorchidism | "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators] |
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| HP:0000033 | Ambiguous genitalia, male | |
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| HP:0000046 | Scrotal hypoplasia | |
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| HP:0000062 | Ambiguous genitalia | |
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| HP:0000478 | Abnormality of the eyes | "Any abnormality of the `eyes` (FMA:54448), including location, spacing, and intraocular abnormalities." [HPO:curators] |
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| HP:0000602 | Ophthalmoplegia | |
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| HP:0001265 | Hyporeflexia | |
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| HP:0001308 | Tongue fasciculations | |
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| HP:0001336 | Myoclonus | "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators] |
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| HP:0001510 | Growth retardation | |
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| HP:0001522 | Death in infancy | |
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| HP:0001608 | Abnormality of the voice | "Any abnormality of the voice." [HPO:curators] |
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| HP:0001662 | Bradycardia | |
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| HP:0001695 | Cardiac arrest | |
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| HP:0001939 | Metabolism abnormality | |
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| HP:0002020 | Gastroesophageal reflux | |
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| HP:0002045 | Hypothermia | |
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| HP:0002104 | Apnea | "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [HPO:curators] |
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| HP:0002459 | Dysautonomia | |
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| HP:0006543 | Cardiorespiratory arrest | |
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| HP:0008708 | Partial development of the penile shaft | |
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| HP:0008715 | Testicular dysgenesis | |
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| HP:0008733 | Dysplastic testes | |
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| HP:0008736 | Hypoplasia of penis | |
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| HP:0008872 | Feeding problems in infancy | |
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| HP:0010307 | Stridor | "Stridor is a high pitched sound resulting from turbulent air flow in the upper airway." [HPO:curators] |
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| HP:0010535 | Sleep apnea | "An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep." [HPO:curators] |
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| HP:0025425 | Laryngospasm | "A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe." [] |
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| HP:0025428 | Bronchospasm | "A spasm (sudden, involuntary constriction) of the bronchioles." [] |
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| HP:0025431 | Staccato cry | "A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations." [] |
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