- Peripheral axonal neuropathy (HP:0003477): An abnormality characterized by disruption of the normal functioning of peripheral axons. Evidence: PCS. (PMID:26924529)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: TAS. (OMIM:616867)
- Pulmonary hypoplasia (HP:0002089). Evidence: PCS. Frequency: 2/2. (PMID:26924529)
- Flexion contracture (HP:0001371): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: PCS. (PMID:26924529)
- Severe muscular hypotonia (HP:0006829): A severe degree of muscular hypotonia characterized by markedly reduced muscle tone. Evidence: PCS. Frequency: 2/2. (PMID:26924529)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. (OMIM:616867)
- Respiratory failure (HP:0002878): A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. Evidence: PCS. (PMID:26924529)
- Spinal muscular atrophy (HP:0007269): Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. Evidence: PCS. (PMID:26924529)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: PCS. Frequency: 2/2. (PMID:26924529)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: PCS. Frequency: 2/2. (PMID:26924529)
- Abnormal cortical gyration (HP:0002536): An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain. Evidence: PCS. Frequency: 2/2. (PMID:26924529)
- Axonal loss (HP:0003447): A reduction in the number of axons in the peripheral nervous system. Evidence: PCS. (PMID:26924529)
- Premature birth (HP:0001622): The birth of a baby of less than 37 weeks of gestational age. Evidence: PCS. Frequency: 2/2. (PMID:26924529)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: PCS. (PMID:26924529)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: PCS. Frequency: 2/2. (PMID:26924529)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: PCS. Frequency: 2/2. (PMID:26924529)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 2/2. (PMID:26924529)
- Areflexia (HP:0001284): Absence of neurologic reflexes such as the knee-jerk reaction. Evidence: PCS. Frequency: 2/2. (PMID:26924529)
- Arthrogryposis multiplex congenita (HP:0002804): Multiple congenital contractures in different body areas. Evidence: PCS. Frequency: 2/2. (PMID:26924529)
- 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:26924529)
- Decreased fetal movement (HP:0001558): An abnormal reduction in quantity or strength of fetal movements. Evidence: PCS. Frequency: 2/2. (PMID:26924529)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: PCS. Frequency: 2/2. (PMID:26924529)
- Multiple prenatal fractures (HP:0005855): The presence of bone fractures in the prenatal period that are diagnosed at birth or before. Evidence: PCS. Frequency: 2/2. (PMID:26924529)
- Patent foramen ovale (HP:0001655): Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. Evidence: PCS. Frequency: 2/2. (PMID:26924529)
- Increased variability in muscle fiber diameter (HP:0003557): An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy. Evidence: PCS. (PMID:26924529)
These phenotypes are associated with the disease spinal muscular atrophy with congenital bone fractures 2 (OMIM:616867).