JOUBERT SYNDROME 2

Question 1

What is  JOUBERT SYNDROME 2?

Accepted Answer

rare
autosomal recessive
mutation in the TMEM216 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Joubert-Syndrom Typ B; Joubert-Syndrom mit okulo-renalem Defekt

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 608091

Question 4

Which enzymes are involved?

Accepted Answer

Transmembrane protein 216

Disease	JOUBERT SYNDROME 2
Synonym	JBTS2;
OMIM	608091 OMIM = Online Mendelian Inheritance of Men
Orphanet	2318
Protein (UniProt)	Transmembrane protein 216
Gene locus	11q12.2
ICD	Q04.3
Summary	rare autosomal recessive mutation in the TMEM216 gene
Laboratory findings
Symptoms	apnea ataxia blindness, visual loss, visual impairment corpus callosum, agenesis/hypoplasia dysmorphism failure to thrive genital hypoplasia hypotonia macrocephaly (large calvaria, >2 SD for age) mental retardation nystagmus onset, infancy onset, neonatal polydactyly renal cysts tachypnea, hyperpnea, dyspnea, hyperventilation