Phenotypes associated with the disease X-linked myotubular myopathy-abnormal genitalia syndrome (ORPHA:456328):
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:456328)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, 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 scrotum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:456328)
- Bifid scrotum (HP:0000048): Midline indentation or cleft of the scrotum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:456328)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:456328)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:456328)
- Penoscrotal hypospadias (HP:0000808): A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:456328)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:456328)
- Respiratory insufficiency (HP:0002093). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:456328)
- Penile hypospadias (HP:0003244): Location of the urethral opening on the inferior aspect of the penis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:456328)
- Blind vagina (HP:0040314): The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:456328)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:456328)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:456328)
- Thin ribs (HP:0000883): Ribs with a reduced diameter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:456328)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:456328)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:456328)