Phenotypes associated with the disease megacystis-microcolon-intestinal hypoperistalsis syndrome 4 (OMIM:619365):
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: PCS. Frequency: 1/1. (PMID:33031641)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: PCS. Frequency: 1/1. (PMID:33031641)
- Megacystis (HP:0000021): Dilatation of the bladder postnatally. Evidence: PCS. Frequency: 1/1. (PMID:33031641)
- Cerebral white matter atrophy (HP:0012762): The presence of atrophy (wasting) of the cerebral white matter. Evidence: PCS. Frequency: 1/1. (PMID:33031641)
- Fetal pyelectasis (HP:0010945): Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement. Evidence: PCS. Frequency: 1/1. (PMID:33031641)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:33031641)
- Mydriasis (HP:0011499): Abnormal dilatation of the iris. Evidence: PCS. Frequency: 1/1. (PMID:33031641)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: PCS. Frequency: 1/1. (PMID:33031641)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 1/1. (PMID:33031641)
- Kidney stone (HP:0000787): Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae. Evidence: PCS. Frequency: 1/1. (PMID:33031641)
- Hypoperistalsis (HP:0100771): Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract. Evidence: PCS. Frequency: 1/1. (PMID:33031641)