Phenotype #0000000554

Individual ID 00001122
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset -
Diagnosis/Initial -
Age/Examination 14y07m (14 years, 7 months)
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset -
Phenotype details Since age 03m: macrocephaly (HP:0000256); Infancy: various infectious diseases without complications; At age 15y: severe diffuse headache (HP:0002315) (also during physical exercise), progressive vertigo (HP:0002321) and gait disturbance (HP:0001288) after respiratory tract infection, psychomotor and speech development normal (but slow in comparision to younger brother; professional training as eletrical engineer), slightly reduced fine motor skills (HP:0007010), impaired motor balance (could not stand properly on one leg); MRI: Symmetric confluent abnormalities of supratentorial white matter, mild frontotemporal atrophy/hypoplasia (for more details see full text)
Protein -
Biochem GA(urine) & 3-OH-GA(urine): strongly elevated (no quantification)
Enzyme/Activity <1%
Owner name Katrin Hinderhofer
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2013-04-17 17:21:21 +02:00 (CEST)
Date last edited 2018-12-18 10:42:22 +01:00 (CET)

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