- Centrally nucleated skeletal muscle fibers (HP:0003687): An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells). Evidence: PCS. Frequency: 1/2. (PMID:23092955)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/3. (PMID:23092955)
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: TAS. (OMIM:615368)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: PCS. Frequency: 3/3. (PMID:23092955)
- Retinal hemorrhage (HP:0000573): Bleeding located within the retina. Retinal hemorrhages range from the smallest dot and blot hemorrhage to massive sub-hyaloid hemorrhage. Evidence: PCS. Frequency: 3/3. (PMID:23092955)
- 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. Frequency: 3/3. Onset: Congenital onset (HP:0003577). (PMID:23092955)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 3/3. Onset: Congenital onset (HP:0003577). (PMID:23092955)
- Areflexia (HP:0001284): Absence of neurologic reflexes such as the knee-jerk reaction. Evidence: PCS. Frequency: 1/3. (PMID:23092955)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. (OMIM:615368)
- EEG with burst suppression (HP:0010851): The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes. Evidence: PCS. Frequency: 1/3. (PMID:23092955)
- Respiratory insufficiency (HP:0002093). Evidence: PCS. Frequency: 3/3. (PMID:23092955)
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: PCS. Frequency: 3/3. (PMID:23092955)
- Congenital contracture (HP:0002803): One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth. Evidence: PCS. (PMID:23092955)
- 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:23092955)
- Decreased fetal movement (HP:0001558): An abnormal reduction in quantity or strength of fetal movements. Evidence: PCS. Frequency: 3/3. (PMID:23092955)
- Subdural hemorrhage (HP:0100309): Hemorrhage occurring between the dura mater and the arachnoid mater. Evidence: PCS. Frequency: 1/3. (PMID:23092955)
- Death in infancy (HP:0001522): Death within the first 24 months of life. Evidence: PCS. Frequency: 3/3. (PMID:23092955)
- Decreased nerve conduction velocity (HP:0000762): A reduction in the speed at which electrical signals propagate along the axon of a neuron. Evidence: PCS. Frequency: 2/2. (PMID:23092955)
- Thin ribs (HP:0000883): Ribs with a reduced diameter. Evidence: PCS. Frequency: 3/3. (PMID:23092955)
These phenotypes are associated with the disease fetal akinesia-cerebral and retinal hemorrhage syndrome (OMIM:615368).