Birth Disorder Information Directory

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UDP-Galactose-4-Epimerase Deficiency

See Galactosemia

Udd (Distal/Tibial) Myopathy (Tibial Muscular Dystrophy, Tardive; Tardive Tibial Muscular Dystrophy)

Uhl Anomaly (Parchment Heart/Right Ventricle)

Ulbright Hodes Syndrome (Renal Dysplasia Limb Defects Syndrome, RL Syndrome)

Ulick Syndrome (Apparent Mineralocorticoid Excess; 11-Beta-Hydroxysteroid Dehydrogenase Type 2 Deficiency; Hypertensive Hypokalemia, Recessive)

List of Sites

Ullrich Disease (Hypotonic Sclerotic Muscular Dystrophy, Scleroatonic Muscular Dystrophy/Myopathy)

Ulna Hypoplasia

See Fryns Hofkens Fabry Syndrome
with Mental Retardation (Mesomelia of the Upper Limbs, Absent Nails, Clubfeet, and Mental Retardation)

Ulna Metaphyseal Dysplasia Syndrome

See Rosenberg Lohr Syndrome

Ulnar-Mammary Syndrome (of Pallister)

See Schinzel Syndrome

Umbilical Cord Ulceration with Intestinal Atresia

List of Sites

Umbilical Hernia

List of Sites

Uncombable Hair Syndrome (Pili Trianguli et Canaliculi, Spunglass Hair)

List of Sites

Unconjugated Benign Bilirubinemia

See Gilbert's Syndrome

Univentricular Heart (Single Ventricle)

List of Sites

Uniparental Disomy

List of Sites

Upington Disease (Familial Dyschondroplasia, Perthes-Like Hip Disease with Enchondromata and Ecchondromata)

Upper Limb Defect with Eye and Ear Abnormalities (Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness)

Upton Young Syndrome (Mental Retardation with Multiple Nevi)

Urban Rogers Meyer Syndrome (Mental Retardation with Short Stature, Hand Contractures and Genital Anomalies; Prader Willi Habitus with Osteopenia and Camptodactyly)

Urban Schosser Spohn Sndrome (Mucoepithelial Dysplasia[, Hereditary])

Ureteropelvic Duplications

Ureteropelvic Duplications

Urethral Obstruction Sequence

See Prune Belly Syndrome

Uridine Monophosphate Synthetase Deficiency

See Orotic Aciduria(, Hereditary)

Urioste Martinez Frias Syndrome (Mullerian Derivatives with Lymphangiectasia and Polydactyly)

Urioste martinez frias syndrome

Urofacial Syndrome (Hydronephrosis with Peculiar Facial Expression, Inverted Smile And Occult Neuropathic Bladder, Ochoa Syndrome, Partial Facial Palsy with Urinary Abnormalities)

Urogenital Adysplasia

See Bilateral Renal Agenesis

Urophathy, Distal Obstructive, with Polydactyly

Urophathy distal obstructive polydactyly

Urticaria

Perstans Hemorrhagica/with Pigmentosa (Mastocytosis, Infantile; Xanthelasmoidea)

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-Deafness-Amyloidosis

See Muckle Wells Syndrome

Usher Syndrome

List of Sites

Uveomeningitis Syndrome

See Vogt Koyanagi Harada Disease

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