Phenotypes associated with the disease X-linked myotubular myopathy-abnormal genitalia syndrome (OMIM:300219):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: IEA. Frequency: 2/2. (PMID:8789451)
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: PCS. Frequency: 1/2. (PMID:10449925)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 2/2. (PMID:10449925)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: PCS. Frequency: 2/2. (PMID:8789451)
- Unilateral cryptorchidism (HP:0012741): Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: PCS. Frequency: 1/2. (PMID:10449925)
- Atelectasis (HP:0100750): Collapse of part of a lung associated with absence of inflation (air) of that part. Evidence: PCS. Frequency: 1/2. (PMID:10449925)
- Fetal onset (HP:0011461): Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). Evidence: PCS. Frequency: 2/2. (PMID:10449925)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: PCS. Frequency: 1/2. (PMID:8789451)
- Death in infancy (HP:0001522): Death within the first 24 months of life. Evidence: PCS. Frequency: 2/2. (PMID:8789451)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: PCS. Frequency: 1/2. (PMID:8789451)
- Ambiguous genitalia, male (HP:0000033): Ambiguous genitalia in an individual with XY genetic gender. Evidence: PCS. Frequency: 1/2. (PMID:8789451)
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: PCS. Frequency: 1/2. (PMID:8789451)
- Centrally nucleated skeletal muscle fibers (HP:0003687): An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells). Evidence: PCS. Frequency: 2/2. (PMID:8789451)
- Micropenis (HP:0000054): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: PCS. Frequency: 1/2. (PMID:8789451)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: PCS. Frequency: 2/2. Onset: Fetal onset (HP:0011461). (PMID:10449925)
- Penile hypospadias (HP:0003244): Location of the urethral opening on the inferior aspect of the penis. Evidence: PCS. Frequency: 1/2. (PMID:10449925)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: PCS. Frequency: 1/2. (PMID:8789451)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: PCS. Frequency: 2/4. (PMID:10449925;PMID:8789451)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: PCS. Frequency: 1/2. (PMID:10449925)
- Glanular hypospadias (HP:0000807): A type of hypospadias in which the urethral meatus is located at the head of the penis, but not all the way at the tip. Evidence: PCS. Frequency: 1/2. (PMID:10449925)
- Decreased fetal movement (HP:0001558): An abnormal reduction in quantity or strength of fetal movements. Evidence: PCS. Frequency: 1/2. (PMID:10449925)
- Bifid scrotum (HP:0000048): Midline indentation or cleft of the scrotum. Evidence: PCS. Frequency: 1/2. (PMID:8789451)
- Neonatal death (HP:0003811): Death within the first 28 days of life. Evidence: IEA. Frequency: 2/2. (PMID:10449925)
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: PCS. Frequency: 2/2. (PMID:8789451)
- Thin ribs (HP:0000883): Ribs with a reduced diameter. Evidence: PCS. Frequency: 1/2. (PMID:8789451)
- Bilateral cryptorchidism (HP:0008689): Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: PCS. Frequency: 1/2. (PMID:10449925)
- Autosomal dominant inheritance (HP:0000006): 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. Evidence: PCS. (PMID:8789451)