X-linked type I<unk>  is diagnosed on clinical findings, but those findings can vary greatly: even within the same family. Manifestations of X-linked type I are classified in the frequent/major findings and minor findings that are found in less than 50% of individuals. The three major findings that suggest a person has X-linked Type I<unk> : # Ocular hypertelorism (~100% cases) # Hypospadias (85-90% cases) # Laryngotracheoesophageal abnormalities (60-70%) Minor findings found in less than 50% of individuals: # Developmental delay (especially intellectually) # Cleft lip/palate # Congenital heart defects # Imperforate (blocked) anus # Brain defects (especially corpus callosum) In 1989, Hogdall used ultrasonographs to diagnose X-linked Type I<unk>  after 19 weeks of pregnancy, by identifying hypertelorism (widely-spaced eyes) and hypospadias (irregular urinary tract openings in the penis). There is also molecular genetic testing available to identify mutations leading to<unk> . X-linked Type I testing must be done on MID1, since this is the only gene that is known to cause Type I<unk> . Two different tests can be performed: sequence analysis and deletion/duplication analysis. In the sequence analysis a positive result would detect 15-50% of the DNA sequence mutated, while a deletion/duplication positive result would find deletion or duplication of one or more exons of the entire MID1 gene.
Opitz G/BBB syndrome
Lown–Ganong–Levine syndrome
Long QT syndrome
Buschke–Ollendorff syndrome
Carney's triad
Short QT syndrome
Pacak–Zhuang syndrome
Pascual-Castroviejo syndrome type 1