Phenotype #0000139684

Individual ID 00174859
Associated disease PSS
Phenotype details intellectual disability, facial dysmorphism, narrow nose, downturned mouth, brachycephaly, microcephaly, myopia, hypotonia; no large ears, no strabismus,no heart defect, no small hands and feet, no multiple exostoses, no parietal foramina, no tapering fingers, no digitalized thumbs, no retinal dystrophy
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 42y (42 years)
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen