- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: PCS. Frequency: 3/3. (PMID:18179883)
- Congenital pulmonary airway malformation (HP:0010959): Congenital pulmonary airway malformation (CPAM) - previously known as congenital cystic adenomatoid malformation (CCAM) - is a relatively rare developmental malformation of the lower respiratory tract. It is a hamartomatous, dysplastic developmental abnormality of the lung characterized by abnormal airway patterning during lung branching morphogenesis and is formed by abnormal branching of the immature bronchioles. Evidence: PCS. Frequency: 1/3. (PMID:18179883)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: PCS. Frequency: 2/3. (PMID:18179883)
- Pulmonary hypoplasia (HP:0002089). Evidence: PCS. Frequency: 3/3. (PMID:18179883)
- Antenatal onset (HP:0030674): Onset prior to birth. Evidence: PCS. Frequency: 3/3. (PMID:18179883)
- Hypoplasia of the bladder (HP:0005343): Underdevelopment of the urinary bladder. Evidence: PCS. Frequency: 2/3. (PMID:18179883)
- Cleft lip (HP:0410030): A gap in the lip or lips. Evidence: PCS. Frequency: 2/3. (PMID:18179883)
- Adrenal gland agenesis (HP:0011743): Absent development of the adrenal gland. Evidence: PCS. Frequency: 1/2. (PMID:18179883)
- Ovotestis (HP:0012861): A gonad that contains both ovarian follicles and testicular tubular elements. Evidence: PCS. Frequency: 1/2. (PMID:18179883)
- Sex reversal (HP:0012245): Development of the reproductive system is inconsistent with the chromosomal sex. Evidence: PCS. Frequency: 3/3. (PMID:18179883)
- 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: PCS. Frequency: 1/3. (PMID:18179883)
- 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:18179883)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. Frequency: 3/3. (PMID:18179883)
- 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: 1/2. (PMID:18179883)
- Bilateral lung agenesis (HP:0005944): Bilateral lack of development of the lungs. Evidence: PCS. Frequency: Very frequent (HP:0040281). (OMIM:611812)
- Congenital diaphragmatic hernia (HP:0000776): The presence of a hernia of the diaphragm present at birth. Evidence: PCS. Frequency: 1/3. (PMID:18179883)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: PCS. Frequency: 1/3. (PMID:18179883)
- Pulmonary artery stenosis (HP:0004415): An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. Evidence: PCS. Frequency: 1/3. (PMID:18179883)
- Renal agenesis (HP:0000104): Agenesis, that is, failure of the kidney to develop during embryogenesis and development. Evidence: PCS. Frequency: 3/3. (PMID:18179883)
These phenotypes are associated with the disease SERKAL syndrome (OMIM:611812).