- 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: 1/8. (PMID:26166481)
- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: PCS. Frequency: 3/8. (PMID:26166481)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 8/8. (PMID:26166481)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. (OMIM:616546)
- Hypoplasia of the brainstem (HP:0002365): Underdevelopment of the brainstem. Evidence: PCS. Frequency: 2/8. (PMID:26166481)
- Retinal coloboma (HP:0000480): A notch or cleft of the retina or choroid, located vertically below the optic disc. Evidence: PCS. Frequency: 2/8. (PMID:26166481)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. (OMIM:616546)
- Enlarged cisterna magna (HP:0002280): Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata. Evidence: PCS. Frequency: 1/8. (PMID:26166481)
- 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: 2/8. (PMID:26166481)
- Hydrops fetalis (HP:0001789): The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. Evidence: PCS. Frequency: 1/8. (PMID:26166481)
- Molar tooth sign on MRI (HP:0002419): An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth. Evidence: PCS. Frequency: 5/5. (PMID:26166481)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: PCS. Frequency: 1/8. (PMID:26166481)
- Narrow chest (HP:0000774): Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. Evidence: TAS. (OMIM:616546)
- Occipital meningocele (HP:0002436): A herniation of meninges through a congenital bone defect in the skull in the occipital region. Evidence: PCS. Frequency: 3/8. (PMID:26166481)
- Short ribs (HP:0000773): Reduced rib length. Evidence: PCS. Frequency: 4/8. (PMID:26166481)
- Polycystic kidney dysplasia (HP:0000113): The presence of multiple cysts in both kidneys. Evidence: PCS. Frequency: 0/6. (PMID:26166481)
- Congenital diaphragmatic hernia (HP:0000776): The presence of a hernia of the diaphragm present at birth. Evidence: PCS. Frequency: 1/8. (PMID:26166481)
- Cerebellar vermis hypoplasia (HP:0001320): Underdevelopment of the vermis of cerebellum. Evidence: PCS. Frequency: 4/8. (PMID:26166481)
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. (OMIM:616546)
- 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: TAS. (OMIM:616546)
- Micropenis (HP:0000054): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: PCS. Frequency: 1/3. (PMID:26166481)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. (OMIM:616546)
- Hypoplasia of the corpus callosum (HP:0002079): Underdevelopment of the corpus callosum. Evidence: PCS. Frequency: 3/8. (PMID:26166481)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: PCS. Frequency: 1/8. (PMID:26166481)
- Aplasia of the olfactory bulb (HP:0032466): Lack of formation (congenital absence) of the olfactory bulb. Evidence: PCS. Frequency: 1/8. (PMID:26166481)
- Hamartoma of tongue (HP:0011802): A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue. Evidence: PCS. Frequency: 1/8. (PMID:26166481)
- Accessory oral frenulum (HP:0000191): Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip. Evidence: PCS. Frequency: 2/8. (PMID:26166481)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 1/8. (PMID:26166481)
- Postaxial polydactyly (HP:0100259): A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe. Evidence: PCS. (PMID:26166481)
- Preaxial polydactyly (HP:0100258): A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe. Evidence: PCS. (PMID:26166481)
- Aplastic clavicle (HP:0006660): Absence of the clavicles as a developmental defect. Evidence: PCS. Frequency: 1/8. (PMID:26166481)
- 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:26166481)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: TAS. (OMIM:616546)
- 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: 1/8. (PMID:26166481)
- Polymicrogyria (HP:0002126): Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds). Evidence: PCS. Frequency: 3/8. (PMID:26166481)
These phenotypes are associated with the disease short-rib thoracic dysplasia 14 with polydactyly (OMIM:616546).