Phenotypes associated with the disease Meckel syndrome, type 6 (OMIM:612284):
- Anencephaly (HP:0002323): Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development. Evidence: PCS. Frequency: 2/11. Onset: Congenital onset (HP:0003577). (PMID:18513680)
- 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: 2/4. Onset: Congenital onset (HP:0003577). (PMID:18513680)
- Pulmonary hypoplasia (HP:0002089). Evidence: PCS. Frequency: 6/6. (PMID:18513680)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: PCS. Frequency: 7/7. Onset: Congenital onset (HP:0003577). (PMID:18513680)
- Cystic liver disease (HP:0006706). Evidence: PCS. Frequency: 7/7. Onset: Congenital onset (HP:0003577). (PMID:18513680)
- Postaxial hand polydactyly (HP:0001162): Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). Evidence: PCS. Frequency: 8/10. (PMID:18513680)
- Hepatic fibrosis (HP:0001395): The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. Evidence: PCS. Frequency: 7/7. (PMID:18513680)
- Occipital encephalocele (HP:0002085): A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp. Evidence: PCS. Frequency: 11/11. Onset: Congenital onset (HP:0003577). (PMID:18513680)
- Horseshoe kidney (HP:0000085): A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. Evidence: PCS. Frequency: 1/11. (PMID:18513680)
- Absent gallbladder (HP:0011467): A developmental defect in which the gallbladder fails to form. Evidence: PCS. Frequency: 1/11. (PMID:18513680)
- Aplasia of the bladder (HP:0010477): Aplasia (absence) of the urinary bladder. Evidence: PCS. Frequency: 1/11. (PMID:18513680)
- Bilobed right lung (HP:0033183): A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung. Evidence: PCS. Frequency: 1/11. (PMID:18513680)
- Bile duct proliferation (HP:0001408): Proliferative changes of the bile ducts. Evidence: TAS. (OMIM:612284)
- 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: 11/11. (PMID:18513680)
- Renal cyst (HP:0000107): A fluid filled sac in the kidney. Evidence: PCS. Frequency: 11/11. Onset: Congenital onset (HP:0003577). (PMID:18513680)
- 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:18513680)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: PCS. Frequency: 1/11. (PMID:18513680)
- Hepatic cysts (HP:0001407). Evidence: PCS. Frequency: 7/7. (PMID:18513680)
- Abnormal internal genitalia (HP:0000812): An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). Evidence: IEA. Frequency: Occasional (HP:0040283). Onset: Congenital onset (HP:0003577). (OMIM:612284)
- Postaxial foot polydactyly (HP:0001830): Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit. Evidence: PCS. Frequency: 10/10. (PMID:18513680)
- Cleft upper lip (HP:0000204): A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. Evidence: PCS. Frequency: 2/4. Onset: Congenital onset (HP:0003577). (PMID:18513680)