
Participant 144
Hirschsprung disease, microcephaly, intellectual disability, speech delay, behavioral issues, sensory and self regulation issues, low tone, poor …
Hirschsprung disease, microcephaly, intellectual disability, speech delay, behavioral issues, sensory and self regulation issues, low tone, poor …
Arthrogryposis multiplex congenita (multiple contractures) including clubfeet, spina bifida (sacral), congenital hypotonia, congenital scoliosis, …
F has developmental delays. There is still no explanation for the developmental delays, and whether or not the different types of delays are …
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.