Chromosome locus: 19p13.13
Gene: NFIX (nuclear factor I X; encodes a transcription factor involved in brain development)
Cause: microdeletions
Inheritance: de novo (Priolo et al), autosomal dominant
Clinical manifestations:
(1) developmental delay
(2) intellectual impairment
(3) macrocephaly
(4) anomalies of the central nervous system
(5) postnatal overgrowth
(6) craniofacial dysmorphism (prominent forehead, short nose, anteverted nares, everted lips, long/triangular face, pointed or prominent chin, up or down slanted palpebral fissures)
(7) behavioral problems (anxiety, autism, other)
(8) ophthalmologic anomalies
(9) gastrointestinal anomalies
(10) musculoskeletal anomalies
(11) hand and foot anomalies (long, tapered fingers; nails)
