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1.

Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects

Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects (NEDCDS) is characterized by global developmental delay, severely impaired intellectual development with poor or absent speech, characteristic facial features, and variable skeletal abnormalities. Additional features include feeding difficulties, inability to walk or walking with an abnormal gait, and cerebellar or other abnormalities on brain imaging (Reichert et al., 2020). [from OMIM]

MedGen UID:
1824008
Concept ID:
C5774235
Disease or Syndrome
2.

Clubbing of toes

Terminal broadening of the toes (distal phalanges of the toes). [from HPO]

MedGen UID:
854352
Concept ID:
C3887489
Anatomical Abnormality

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