WILSON DISEASE Is also known as wnd;wd, hepatolenticular degeneration;hepatolenticular degeneration Related symptoms: Autosomal recessive inheritance Intellectual disability Pica Growth delay Failure to thrive SOURCES: ICD10 GARD OMIM MONDO MESH NCIT [mendelian.co]

[…] to thrive, immunocompetence, family history, and trend toward worsening or improvement. [aetna.com]

He is a world-renowned behavioral neurologist and specialist in cognitive neuroscience, with particular expertise in the aging brain, aphasia, dementia, and neuropsychiatric problems of the elderly. [books.google.it]

[…] relationships Shyness Expressive language delay Inflexible adherence to routines or rituals Lack of spontaneous play Restrictive behavior Impaired use of nonverbal behaviors Increased serum serotonin Hyperventilation Obsessive-compulsive behavior Hyperlordosis Aphasia [mendelian.co]

Hum Genet 97:343-52 (2015) DOI: 10.1016/j.ajhg.2015.07.004 Reference PMID: 28098945 Authors Damiano JA, Burgess R, Kivity S, Lerman-Sagie T, Afawi Z, Scheffer IE, Berkovic SF, Hildebrand MS Title Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia [genome.jp]

Posterior cerebral infarcts cause loss of vision in the opposite half of the visual field and sometimes difficulty in the comprehension of speech (called receptive aphasia). [britannica.com]

[…] excavatum Talipes equinovarus Prominent forehead Macrotia Postnatal growth retardation Spasticity Attention deficit hyperactivity disorder Synophrys Rare Symptoms - Less than 30% cases Cataract Abnormal hair pattern Patent ductus arteriosus Acidosis Dysarthria [mendelian.co]

SNOMED-CT } Wolf Hirschhorn syndrome (disorder) {718226002, SNOMED-CT } X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) {719139003, SNOMED-CT } X-linked intellectual deficit-dystonia-dysarthria [phinvads.cdc.gov]

With liver failure dementia, confusion, aphasia, dysarthria, tremors of the limbs, and coma may result. Kidney failure is often associated with high blood pressure, which may lead to acute brain edema (distension with fluid), visual loss, and coma. [britannica.com]

Affected individuals typically present with asymmetric focal weakness of the extremities (stumbling or poor handgrip) or bulbar findings (dysarthria, dysphagia). [aetna.com]

changes Arthropathy Hypoparathyroidism Global brain atrophy Increased body weight Ventricular tachycardia Hypersexuality Mixed demyelinating and axonal polyneuropathy Confusion Congenital cataract Pigmentary retinopathy Urinary incontinence Hematuria [mendelian.co]

Early symptoms of the disease include personality changes, such as irritability and depression, and an inclination to alcohol abuse. [britannica.com]

Typical symptoms include eye pain and vision disturbances; speech disorders; facial numbness or pain; incoordination of gait and of the limbs; spasticity, weakness, and increased reflexes; frequency and urgency of bladder emptying; and alteration in sensation [britannica.com]