Phenotypes associated with the disease SERKAL syndrome (ORPHA:139466):
- Renal agenesis (HP:0000104): Agenesis, that is, failure of the kidney to develop during embryogenesis and development. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:139466)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:139466)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:139466)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:139466)
- Sex reversal (HP:0012245): Development of the reproductive system is inconsistent with the chromosomal sex. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:139466)
- Abnormal penis morphology (HP:0000036): Abnormality of the male external sex organ. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:139466)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:139466)
- Orofacial cleft (HP:0000202): The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:139466)
- Congenital diaphragmatic hernia (HP:0000776): The presence of a hernia of the diaphragm present at birth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:139466)
- Abnormality of the adrenal glands (HP:0000834): Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:139466)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:139466)
- Pulmonic stenosis (HP:0001642): A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:139466)
- Malrotation of small bowel (HP:0004794): A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:139466)
- Hypoplasia of the bladder (HP:0005343): Underdevelopment of the urinary bladder. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:139466)
- Abnormal cardiovascular system morphology (HP:0030680): Any structural anomaly of the heart and blood vessels. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:139466)