Abnormalities, Multiple/genetics; Acrocephalosyndactylia/genetics; Chromosomes, Human, Pair 2/ultrastructure; Chromosomes, Human, Pair 7/ultrastructure; Nerve Tissue Proteins/deficiency; Nuclear Proteins/deficiency; Zinc Finger Protein Gli2/deficiency; Zinc Finger Protein Gli3/deficiency; Adolescent; Child, Preschool; Chromosomes, Human, Pair 2/genetics; Chromosomes, Human, Pair 7/genetics; Cleft Palate/genetics; Dwarfism/genetics; Female; Glucose Intolerance/genetics; Hedgehog Proteins/physiology; Hemangioma, Cavernous, Central Nervous System/genetics; Humans; Intellectual Disability/genetics; Karyotyping; Models, Biological; Morphogenesis/genetics; Nerve Tissue Proteins/genetics; Nerve Tissue Proteins/physiology; Nuclear Proteins/genetics; Nuclear Proteins/physiology; Oligonucleotide Array Sequence Analysis; Phenotype; Sequence Deletion; Signal Transduction/genetics; Syndrome; Zinc Finger Protein Gli2/genetics; Zinc Finger Protein Gli2/physiology; Zinc Finger Protein Gli3/genetics; Zinc Finger Protein Gli3/physiology

Contiguous gene deletion syndrome; Culler-Jones syndrome; GLI family zinc finger protein; Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; SNP array; Sonic hedgehog pathway