Total 28 clinical symptoms reported for Epidermolysis bullosa simplex 5C, with pyloric atresia  Occasional (17)Frequent (11)

Abnormality of the urethra	An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body.   Synonyms:Urethra issue	Occasional
Aplasia cutis congenita of scalp	A developmental defect resulting in the congenital absence of skin on the scalp.   Synonyms:Scalp aplasia cutis congenita	Occasional
Aplasia cutis congenita on trunk or limbs	A developmental defect resulting in the congenital absence of skin on the trunk or the limbs.	Occasional
Aplasia of the bladder	Aplasia (absence) of the urinary bladder.   Synonyms:Absent bladder	Occasional
Atrophic scars	Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.   Synonyms:Sunken or indented skin due to damage; Thin, atrophic scars	Occasional
Flexion contracture	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.   Synonyms:Contracture; Flexed joint that cannot be straightened; Flexion contractures; Flexion contractures of joints; Joint contracture; Joint contractures	Occasional
Glomerular sclerosis	Accumulation of scar tissue within the glomerulus.   Synonyms:Glomerulosclerosis	Occasional
Hydronephrosis	Severe distention of the kidney with dilation of the renal pelvis and calices.	Occasional
Microtia	Underdevelopment of the external ear.   Synonyms:Bilateral microtia; Hypoplasia of the external ear; Hypoplastic ears; Hypoplastic pinna; Small ears; Small pinnae; Underdeveloped ears	Occasional
Milia	Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.   Synonyms:Milk spot; Millium cyst	Occasional
Muscular dystrophy	The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.	Occasional
Nail dystrophy	Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.   Synonyms:Dystrophic nails; Onychodystrophy; Poor nail formation	Occasional
Polyhydramnios	The presence of excess amniotic fluid in the uterus during pregnancy.   Synonyms:High levels of amniotic fluid; Hydramnios	Occasional
Renal duplication	A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.   Synonyms:Extra kidney	Occasional
Renal dysplasia	The presence of developmental dysplasia of the kidney.   Synonyms:Dysplastic kidneys; Renal adysplasia	Occasional
Scarring alopecia of scalp	Synonyms:Cicatricial alopecia	Occasional
Ureterocele	A ureterocele is a congenital saccular dilatation of the distal segment of the ureter.	Occasional