
Fenna
Developmental delays. There is still no explanation for the developmental delays, and whether or not the different types of delays are connected. For …
Developmental delays. There is still no explanation for the developmental delays, and whether or not the different types of delays are connected. For …
Intellectual disability, weakness of neck flexors and distal flexors of fingers. Neuromuscular disease, problems regulating muscle tone. Most likely …
Total sclerocornea, microcornea, microphtalmia, wolff-parkinson-white syndrome, asymmetrical brain development, macrocephaly, hypotonia, pulmonary …
Developmental delay, concern for developmental coordination disorder (DCD), fatigue, food intolerances (wheat, spelt, peanuts)
This 31-year-old woman was born of a consanguineous marriage and was seen for pain in distal limbs and walking difficulty.
This is a 20-year-old woman born from a consanguineous marriage, who presented at age 5 years wtih difficulty walking and running, and frequent …
She presented at age 48 years with by abnormal jerking movements in all 4 limbs. These symptoms worsened progressively making walking difficult with …
His condition presented at age 45 years with jerking movements in arms and legs while seating and lying. Relatives have noted these movements also …