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734 results
  1. MN1 C-Terminal Truncation Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK560443
    ... Constitutional Measure height, weight, & head circumference. Craniofacial Dental eval Oral-maxillofacial eval Incl: Dental anomalies (e.g., conical teeth, crowded ...
  2. THOC6 Intellectual Disability Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK560442
    ... Developmental assessment Incl motor, adaptive, cognitive, & speech/language eval Eval for early intervention / special education Psychiatric/ Behavioral Neuropsychiatric ...
  3. SOX2 Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1300
    ... assoc w/future epilepsy. Anterior pituitary hypoplasia Endocrine eval Assess: Growth hormone & thyroid function; Gonadotropins (when age ... w/micropenis, refer to endocrinologist for consideration of eval for hypogonadotropic hypogonadism. Females: Consider pelvic ultrasound exam &/ ...
  4. Hyaline Fibromatosis Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1525
    ... Concern Evaluation Comment GI/Nutrition Complete GI & nutritional eval Incl eval for intestinal malabsorption & protein-losing enteropathy Musculoskeletal Consider ...
  5. Write to the Help Desk · NLM Customer Support Center 
    https://support.nlm.nih.gov/support/create-case
    ... Page_Validators.push(newValidator); */ // add email validator var eVal = document.createElement('span'); eVal.style.display = "none"; eVal.id = "emailFieldValidator"; eVal.controltovalidate = " ...
  6. Multiple Acyl-CoA Dehydrogenase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK558236
    ... bicarbonate, BUN, creatinine CK CBC w/differential & additional eval if infection suspected Urgent labs to be obtained ... brain malformations. Cardiologic Consider cardiology consult & echocardiography. For eval of cardiomyopathy Miscellaneous/ Other Consult w/psychologist &/or ...
  7. ADCY5 Dyskinesia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK263441
    ... Children: To incl motor, adaptive, cognitive, & speech/language eval; eval for early intervention / special education Clinical psychologist Adults: ... autistic-like behavior Cardiac involvement ECG, echocardiogram, cardiology eval Dilated cardiomyopathy may be a manifestation. Genetic counseling ...
  8. SERAC1 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK195853
    ... tests. Neonatal hypoglycemia Assess blood sugar Neurologic Neurologic eval To assess: Spasticity Dystonia Possible seizures, incl EEG ... education. Musculoskeletal Orthopedics / physical medicine & rehab / PT/OT eval Incl assessment of: Gross motor & fine motor skills; ...
  9. Craniometaphyseal Dysplasia, Autosomal Dominant - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1461
    ... feeding problems in infancy Referral for craniofacial team eval incl otolaryngologic eval Incl eval for choanal stenosis Skeletal hyperostosis X-rays of ...
  10. HPRT1 Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1149
    ... window System/Concern Evaluation Comment Motor abnormalities Neurologic eval Developmental eval PT/rehab eval PT/OT eval Assess: Motor disorder; Contractures (& if ...
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