Key features of this disorder are neurodevelopmental impairment, and more especially intellectual disability, speech delay, skeletal (distal limb) malformations, and variable dysmorphic features.
In the original study, all subjects exhibited DD or ID, speech delay, and had variable dysmorphic features, among which prominent nose and up-slanting or short palpebral fissures were the most frequent findings.
Almost all individuals had postnatal microcephaly. Brain imaging showed abnormalities in five out of six subjects tested (small anterior pituitary, bilateral nonspecific multifocal white matter lesions, reduced signal intensity of frontal and temporal white matter periventricular white matter lesions, borderline low positioned cerebellar tonsil on right).
Almost all subjects had skeletal anomalies, including 5th digit clinodactyly, broad halluces, sandal gap.