Phenotypes associated with the disease multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome (OMIM:236500):
- Pulmonary hypoplasia (HP:0002089). Evidence: PCS. Frequency: 11/11. Onset: Congenital onset (HP:0003577). (PMID:28264986)
- Renal hypoplasia (HP:0000089): Hypoplasia of the kidney. Evidence: IEA. (OMIM:236500)
- Hypoplasia of the brainstem (HP:0002365): Underdevelopment of the brainstem. Evidence: PCS. (PMID:28264986)
- Anteverted nares (HP:0000463): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: PCS. (PMID:28264986)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: PCS. Frequency: 3/3. (PMID:28264986)
- Cutaneous syndactyly (HP:0012725): A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits. Evidence: PCS. Frequency: 7/7. Onset: Congenital onset (HP:0003577). (PMID:28264986)
- Multinucleated neuron (HP:4000150): Neurons that contain more than one nucleus. Evidence: PCS. Frequency: 3/3. (PMID:28264986)
- Narrow nasal ridge (HP:0000418): Decreased width of the nasal ridge. Evidence: PCS. (PMID:28264986)
- Single transverse palmar crease (HP:0000954): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: PCS. Frequency: 3/3. Onset: Congenital onset (HP:0003577). (PMID:28264986)
- Stillbirth (HP:0003826): Death of the fetus in utero after at least 22 weeks of gestation. Evidence: PCS. Frequency: 6/12. (PMID:28264986)
- Bulbous nose (HP:0000414): Increased volume and globular shape of the anteroinferior aspect of the nose. Evidence: PCS. (PMID:28264986)
- Redundant neck skin (HP:0005989): Excess skin around the neck, often lying in horizontal folds. Evidence: PCS. Frequency: 5/5. (PMID:28264986)
- Cystic hygroma (HP:0000476): A cystic lymphatic lesion of the neck. Evidence: PCS. Frequency: 3/3. Onset: Antenatal onset (HP:0030674). (PMID:28264986)
- Renal dysplasia (HP:0000110): The presence of developmental dysplasia of the kidney. Evidence: PCS. Frequency: 11/11. (PMID:28264986)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: PCS. Frequency: 11/11. Onset: Antenatal onset (HP:0030674). (PMID:28264986)
- 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: 3/3. (PMID:28264986)
- Choanal stenosis (HP:0000452): Abnormal narrowing of the choana (the posterior nasal aperture). Evidence: PCS. (PMID:28264986)
- Cerebellar hypoplasia (HP:0001321): Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. Evidence: PCS. Frequency: 8/8. (PMID:28264986)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: PCS. (PMID:28264986)
- Narrow palpebral fissure (HP:0045025): Reduction in the vertical distance between the upper and lower eyelids. Evidence: PCS. (PMID:28264986)
- 2-3 toe syndactyly (HP:0004691): Syndactyly with fusion of toes two and three. Evidence: TAS. (OMIM:236500)
- Ureteral agenesis (HP:0012300): Failure of the ureter to undergo development. Evidence: PCS. Frequency: 11/11. Onset: Congenital onset (HP:0003577). (PMID:28264986)
- Microretrognathia (HP:0000308): A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly. Evidence: PCS. Frequency: 3/3. (PMID:28264986)
- Renal cyst (HP:0000107): A fluid filled sac in the kidney. Evidence: IEA. (OMIM:236500)
- 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:28264986)
- Arthrogryposis multiplex congenita (HP:0002804): Multiple congenital contractures in different body areas. Evidence: PCS. Frequency: 12/12. (PMID:28264986)
- Potter facies (HP:0002009): A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose. Evidence: PCS. (PMID:28264986)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: PCS. Frequency: 3/3. (PMID:28264986)
- Neonatal death (HP:0003811): Death within the first 28 days of life. Evidence: PCS. Frequency: 2/12. (PMID:28264986)
- 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: 3/3. Onset: Congenital onset (HP:0003577). (PMID:28264986)
- Hydranencephaly (HP:0002324): A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue. Evidence: PCS. Frequency: 12/12. Onset: Congenital onset (HP:0003577). (PMID:28264986)