Genetic and Metabolic Disorders — Flashcards

Which demyelinating disease affects the white matter of the central nervous system, adrenal cortex, and testes?_____

All digits of equal length (starfish hand) is seen in _____

Vogt's triad of tuberous sclerosis consists of EPILOA:_____

Patients with neurofibromatosis type _____ and Noonan syndrome have a predilection to develop juvenile myelomonocytic leukemia

Neurological involvement is not seen in type _____ Gaucher's disease.

Persistent hyperplastic primary vitreous (PHPV) is associated with _____.

Is irritability and crying an inherent feature of inborn errors of metabolism?_____

Spinal Muscular Atrophy is an _____ condition

Monosomy 1p36 syndrome is associated with what head circumference abnormality?

_____ syndrome is characterized by developmental delay, hypotonia, ataxia, breathing abnormalities including episodic apnea and hyperpnea