Phenotypes associated with the disease Galloway-Mowat syndrome 4 (OMIM:617730):
- Hypermelanotic macule (HP:0001034): A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size. Evidence: PCS. Frequency: 1/4. (PMID:28805828)
- Stage 5 chronic kidney disease (HP:0003774): A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. Evidence: PCS. Frequency: 1/4. (PMID:28805828)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/4. (PMID:28805828)
- Nephrotic syndrome (HP:0000100): Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. Evidence: PCS. Frequency: 4/4. (PMID:28805828)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 1/4. (PMID:28805828)
- 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: 2/4. (PMID:28805828)
- 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: 3/4. (PMID:28805828)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/4. (PMID:28805828)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 1/4. (PMID:28805828)
- Large face (HP:0100729). Evidence: PCS. Frequency: 1/4. (PMID:28805828)
- Congenital nephrotic syndrome (HP:0008677): Nephrotic syndrome with onset within the first three months of life. Evidence: PCS. Frequency: 2/4. (PMID:28805828)
- Diffuse mesangial sclerosis (HP:0001967): Thickening and scarring (sclerosis) of the mesangium (a structure in the glomerulus). The sclerosis affects a large portion of the mesangium across multiple glomeruli. Histologic features include an increase in the mesangial matrix, thickened glomerular basement membrane, tubular casts, and interstitial inflammation. Diffuse mesangial sclerosis presents with nephrotic syndrome at birth or within the first year of life. Glomeruli are small and condensed in appearance, with early lesions showing increased loose mesangial collagen that progress to sclerosis with dense collagen without hypercellularity. Podocytes do not show hyperplasia but may be immature and cobblestone-like. Electron microscopy shows extensive foot process effacement without deposits, but increased collagen within mesangial areas. Evidence: PCS. Frequency: 1/4. (PMID:28805828)
- Protruding ear (HP:0000411): Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). Evidence: PCS. Frequency: 1/4. (PMID:28805828)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 1/4. (PMID:28805828)
- Cerebral atrophy (HP:0002059): Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. Evidence: PCS. Frequency: 1/4. (PMID:28805828)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. (PMID:28805828)
- 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: 1/4. (PMID:28805828)
- Prominent glabella (HP:0002057): Forward protrusion of the glabella. Evidence: PCS. Frequency: 1/4. (PMID:28805828)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: PCS. Frequency: 1/4. (PMID:28805828)
- 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: 3/4. (PMID:28805828)
- Focal segmental glomerulosclerosis (HP:0000097): Segmental accumulation of scar tissue in individual (but not all) glomeruli. Evidence: PCS. Frequency: 1/4. (PMID:28805828)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: PCS. Frequency: 4/4. (PMID:28805828)
- Tapered finger (HP:0001182): The gradual reduction in girth of the finger from proximal to distal. Evidence: IEA. (OMIM:617730)
- Primary microcephaly (HP:0011451): Head circumference below 2 standard deviations below the mean for age and gender at birth. Evidence: PCS. Frequency: 4/4. (PMID:28805828)
- 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:28805828)
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: IEA. (OMIM:617730)
- Plagiocephaly (HP:0001357): Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. Evidence: PCS. Frequency: 1/4. (PMID:28805828)
- Spasticity (HP:0001257): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: PCS. Frequency: 1/4. (PMID:28805828)
- 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: 2/4. (PMID:28805828)