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Developmental delay
- ... syndrome with acanthosis nigricans, and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). However, in contrast to ... hearing loss, subtle hand and foot abnormalities, and developmental delays. The variant that causes Muenke syndrome substitutes the ...
- ... Norrie disease, which causes blindness and sometimes mild developmental delays and problems with other body systems. Individuals missing ... B deletion syndrome in male siblings with severe developmental delay and sudden loss of muscle tonus. Brain Dev. ...
- ... people with Potocki-Shaffer syndrome include intellectual disability, developmental delay, distinctive facial features, vision problems, and defects in ...
- ... and impair the function of neurons, leading to developmental delay, hypotonia, and other neurological problems in people with ... microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination. Am J ...
- ... a very rare condition called congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA) syndrome. Individuals with this condition have severe intellectual and developmental delays. They also have a very limited or no ...
- ... may include a small head size (microcephaly), severe developmental delays, abnormal movements (dyskinesia), seizures, and encephalopathy (abnormal brain ...
- ... by an unusually small head size (microcephaly), severe developmental delay, and recurrent seizures that are difficult to treat ( ... in normal brain development lead to microcephaly, severe developmental delay, and the other signs and symptoms of phosphoglycerate ...
- ... Dieker syndrome is characterized by intellectual disabilities and developmental delays that are caused by an abnormally smooth brain ... have been associated with weak muscle tone (hypotonia), developmental delays, delayed speech, seizures, and brain abnormalities. 14-3- ...
- ... have been found to cause microcephaly, seizures, and developmental delay (MCSZ). This condition is characterized by problems with ... of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair. ...
- ... syndrome. This condition is characterized by intellectual disability, developmental delay, distinctive facial features, and brain abnormalities. All MN1 ...
