Table 2.

Extrarenal manifestations of nephronophthisis (NPHP) and their associated syndromes.

Extrarenal manifestation associated with NPHP	Syndrome
Retinitis pigmentosa/retinal dystrophy	Senior–Løken syndrome
	Alström syndrome
	Arima syndrome
Oculomotor apraxia	Cogan syndrome
Nystagmus	Joubert syndrome and related disorders
Ocular coloboma	Joubert syndrome and related disorders
Posterior encephalocele	Meckel–Gruber syndrome
Abnormal respiratory pattern	Joubert syndrome and related disorders
Cerebellar vermis aplasia/hypoplasia	Joubert syndrome and related disorders
Liver fibrosis	Joubert syndrome and related disorders
	Meckel–Gruber syndrome
	Arima syndrome
Postaxial polydactyly	Bardet–Biedl syndrome
	Joubert syndrome and related disorders
Skeletal dysplasia	Ellis–van Creveld syndrome
	Sensenbrenner syndrome
	Jeune syndrome
	Mainzer–Saldino syndrome
Situs inversus/cardiac malformation	Infantile NPHP