Presentation
Musculoskeletal
- Osteoporosis
[…] lyase deficiency AGAT deficiency Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus Albinism alkaptonuria Alpha-Ketoglutarate Dehydrogenase Deficiency Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis [rgd.mcw.edu]
She developed diabetes at age 22 years, and also had osteoporosis with no other bony abnormalities. [findzebra.com]
[…] appearance syndrome Acromegaly Acromesomelic dwarfism Acromesomelic dysplasia, Grebe type Acromesomelic dysplasia, Hunter-Thomson type Acromesomelic dysplasia, Maroteaux type Acrometageria Acromicric dysplasia Acroosteolysis dominant type Acroosteolysis with osteoporosis [csbg.cnb.csic.es]
Psychiatrical
- Behavior Disorder
disorders, most commonly attention deficit hyperactivity disorder. [orpha.net]
Disorders 300491 Genetic Test Registry Epileptic Encephalopathy, Childhood-Onset EEOC 615369 Genetic Test Registry Epileptic Encephalopathy, Early Infantile, 1 Iinfantile Epileptic-Dyskinetic Encephalopathy Infantile Spasm Syndrome, X-Linked 1 Ohtahara [ukgtn.nhs.uk]
disorders X-linked HSAS X-linked hydrocephalus with stenosis of aqueduct of Sylvius X-linked hyper-IgM syndrome X-linked hypohidrotic ectodermal dysplasia X-linked hypophosphatemia X-linked hypophosphatemic rickets X-linked ichthyosis X-linked immunodeficiency [csbg.cnb.csic.es]
- Withdrawn
[…] symbols: CMT2Q, DKFZP762M115, KIAA1630, MGC3090 ) Mouse Orthologs Dhtkd1 (Withdrawn symbols: C330018I04Rik ) Source OMIM:204750 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) [mousephenotype.org]
Neurologic
- Hyperactivity
[…] disorder of lysine and hydroxylysine metabolism characterized by variable clinical presentation including hypotonia, developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioral disorders, most commonly attention deficit hyperactivity [orpha.net]
Name 2-Aminoadipic 2-Oxoadipic Aciduria Synonyms - Classification genetic, metabolism Phenotypes Aminoaciduria ; Attention deficit hyperactivity disorder ; Autosomal recessive inheritance ; Delayed speech and language development ; Generalized hypotonia [mousephenotype.org]
At 11 years of age, she was diagnosed with attention deficit hyperactivity disorder. Symptoms improved after implementation of methylphenidate. [ncbi.nlm.nih.gov]