[…] of mild hypotonia Persistence of mild hypotonia Pathological neurological findings Significant delay in developmental milestones and communicative reactions Significant delay [doi.org]

somnolence, enlarged liver and spleen Persistence of hypotonia and mildly enlarged liver and spleen Persistence of mild hypotonia and mildly enlarged liver and spleen Persistence [doi.org]

7,445 Length, cm 60 61.5 65.5 67.5 69 Head circumference, cm 39 42 43.5 45 46 Pathological clinical findings Poor weight gain, feeding difficulties, severe pallor, muscle hypotonia [doi.org]

Except for 1 patient who developed mild muscle hypotonia, all patients remain asymptomatic at ages ranging from 3 to 14 months of age. [ncbi.nlm.nih.gov]

Except for 1 patient who developed mild muscle hypotonia, all patients remain asymptomatic at ages ranging from 3 to 14 months of age. Conclusions. [experts.umn.edu]

The patients, aged 14 and 16 years, had truncal obesity, mild mental retardation, hypotonia, narrow hands and feet, a high-arched palate, prominent upper central incisors, [ncbi.nlm.nih.gov]

Affected infants display tremors with hypotonia and mild contractures of the shoulders and hips; proximal contractures progressively weaken and a pectus carinatum develops [medical-dictionary.thefreedictionary.com]

In the first months of life, affected infants have tremors with hypotonia and mild contractures of the shoulders and hips. [unboundmedicine.com]

developmental delay, mild to severe intellectual disability, ataxia, epilepsy and behavioral disorders, most commonly attention deficit hyperactivity disorder. [orpha.net]

Patients can have mild to severe intellectual disability, muscular hypotonia, developmental delay, ataxia, and epilepsy. Most cases are asymptomatic. [uniprot.org]

Disease definition 2-aminoadipic 2-oxoadipic aciduria is a rare disorder of lysine and hydroxylysine metabolism characterized by variable clinical presentation including hypotonia [orpha.net]

These children may also have histories of mild fasting hypoglycemia and hypotonia. [humpath.com]

[…] fasting hypoglycemia, hypotonia, and delayed motor milestones in early childhood. [emedicine.medscape.com]

Adult patients may have mild or no hepatomegaly. Delay in motor milestones may be noted in a young child, and mild hypotonia and muscle weakness may be present. [humpath.com]

[…] muscular hypotonia, generalized seizures, and mild mental retardation. [ncbi.nlm.nih.gov]

[…] mosaic areas of alopecia, facial dysmorphism with midface hypoplasia, bilateral punctate cataract, microretrognathia, short neck, pectus excavatum, joint hypermobility, mild [ncbi.nlm.nih.gov]

[…] infancy or early childhood w/out compensatory tachycardia Undetectable or very low plasma & urinary norepinephrine & epinephrine, w/normal dopamine Impaired renal function, mild [ncbi.nlm.nih.gov]

[…] hypoglycemia Shortened life span Can be treated w/droxidopa In CYB561 deficiency: No ptosis No orthostatic tachycardia in response to drop in blood pressure No skeletal muscle hypotonia [ncbi.nlm.nih.gov]

Mild-to-moderate mental deficiency with hypotonia. Careful airway evaluation must be performed. [accessanesthesiology.mhmedical.com]

White matter lesions[edit] Ten (of 75) young patients had neurologic findings such as febrile seizures, single generalized seizures, mild ataxia, and muscular hypotonia with [en.wikipedia.org]