- Encephalopathy (HP:0001298): Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. Evidence: PCS. (PMID:21353613)
- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: PCS. Frequency: 1/2. Onset: Antenatal onset (HP:0030674). (PMID:16267323)
- 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. Frequency: 1/2. (PMID:16267323)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: PCS. Frequency: 3/3. (PMID:25970099;PMID:21353613)
- 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: 1/2. Onset: Congenital onset (HP:0003577). (PMID:25970099)
- Antenatal onset (HP:0030674): Onset prior to birth. Evidence: IEA. (PMID:21353613)
- Short nose (HP:0003196): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: PCS. Frequency: 1/2. (PMID:16267323)
- 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: 1/2. (PMID:16267323)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: PCS. Frequency: 1/1. (PMID:21353613)
- Erythema (HP:0010783): Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: PCS. Frequency: 1/2. (PMID:16267323)
- Brain atrophy (HP:0012444): Partial or complete wasting (loss) of brain tissue that was once present. Evidence: PCS. Frequency: 1/1. (PMID:21353613)
- Hypoglutaminemia (HP:0500147): The concentration of glutamine in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 2/2. (PMID:16267323)
- Hyperammonemia (HP:0001987): An increased concentration of ammonia in the blood. Evidence: PCS. Frequency: 1/1. (PMID:21353613)
- Subependymal cysts (HP:0002416): Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life. Evidence: PCS. Frequency: 1/2. (PMID:16267323)
- CNS hypomyelination (HP:0003429): Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. Evidence: PCS. (PMID:21353613)
- Lateral ventricle dilatation (HP:0006956). Evidence: PCS. Frequency: 1/2. Onset: Antenatal onset (HP:0030674). (PMID:16267323)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: TAS. Frequency: 1/2. Onset: Congenital onset (HP:0003577). (PMID:16267323)
- Thin vermilion border (HP:0000233): Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips). Evidence: PCS. Frequency: 1/2. (PMID:16267323)
- Hypoplasia of the corpus callosum (HP:0002079): Underdevelopment of the corpus callosum. Evidence: TAS. Frequency: 1/1. (PMID:21353613)
- Bradycardia (HP:0001662): A slower than normal heart rate (in adults, slower than 60 beats per minute). Evidence: PCS. Frequency: 1/1. (PMID:21353613)
- Lower limb hyperreflexia (HP:0002395): Increased intensity of the a reflex in the leg. Evidence: PCS. Frequency: 1/1. (PMID:21353613)
- Severe global developmental delay (HP:0011344): A severe delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: PCS. Frequency: 1/1. (PMID:21353613)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 1/2. Onset: Congenital onset (HP:0003577). (PMID:16267323)
- Camptodactyly (HP:0012385): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. Evidence: PCS. Frequency: 1/2. Onset: Congenital onset (HP:0003577). (PMID:16267323)
- 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:16267323)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 1/1. (PMID:21353613)
- Neonatal death (HP:0003811): Death within the first 28 days of life. Evidence: PCS. Frequency: 2/2. (PMID:16267323)
- Decreased CSF glutamine concentration (HP:0500198): Abnormally decreased levels of glutamine in cerebrospinal fluid. Evidence: PCS. Frequency: 3/3. (PMID:16267323;PMID:21353613)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: PCS. Frequency: 2/2. Onset: Neonatal onset (HP:0003623). (PMID:16267323)
- 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: 2/2. Onset: Congenital onset (HP:0003577). (PMID:25970099)
- Apnea (HP:0002104): Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. Evidence: PCS. Frequency: 1/1. (PMID:21353613)
These phenotypes are associated with the disease congenital brain dysgenesis due to glutamine synthetase deficiency (OMIM:610015).