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Schematic drawing of the NDP gene and the Norrin protein:
Mutations have been compiled from the literature (Pubmed database entries, meeting abstracts, etc.) by:
Nikolaus Schäfer and Wolfgang Berger.
| Exon(s) | Mutation on DNA Level | Phenotype | References* |
| 1-3 | entire NDP deletion, as well as part of MAOB, 150 kb | ND | Berger, 1992 |
| 1-3 | entire NDP deletion, as well as MAOA and MAOB; 2-2.5 Mb | ND | Suarez-Merino, 2001 |
| 1-3 | entire NDP deletion, as well as MAOA and MAOB; 494.1 kb | ND, progressive dyspnea, pulmonary hypertension, sudden death | Staropoli, 2010 |
| 1-3 | entire NDP deletion, as well as MAOA , MAOB and EFHC2; appr. 1 Mb | ND, psychomotor retardation, myoclonic epilepsy | Rodriguez-Revenga, 2007 |
| 2-3 | partial NDP deletion, deletion of MAOA and MAOB, 340 kb | ND | Berger, 1992 |
| 2-3 | partial NDP deletion, 15-20 kb | ND | Berger, 1992 |
| 2-3 | partial NDP deletion | ND | Schuback, 1995 |
| 1 | partial NDP deletion, 8-15 kb | ND | Berger, 1992 |
| 2 | partial NDP deletion, 2-4 kb | ND | Berger, 1992 |
| 2 | partial NDP deletion, 4kb | ND | Chen, 1993 |
| 2 | partial NDP deletion, 5kb | ND | Chen, 1993 |
| 2 | partial NDP deletion, 2-10kb | ND | Chen, 1993 |
| 2 | partial NDP deletion | ND | Schuback, 1995 |
| 2 | partial NDP deletion | ND | Halpin, 2008 |
| 3 | partial NDP deletion; MAOA and MAOB del >20kb | ND | Chen, 1993 |
| 3 | partial NDP deletion; part of exon 3; 7 kb | ND | Chen, 1993 |
| 3 | partial NDP deletion | ND | Schuback, 1995 |
| 3 | partial NDP deletion | ND | Schuback, 1995 |
| 3 | partial NDP deletion; 3'-UTR of exon 3 inclusive PAS | ND | Rivera-Vega, 2005 |
| 4 different deletions (complete, partial, 4bp and single) | ND | Zhu, 1994 | |
| Xp11.4invq22 | ND | Pettenati, 1993 |
* Most of the cited references have multiple authors. For lack of space, we only included the last name of the first authors of the respective publications.
Large Deletions
Exon and intron 1 and 2 mutations
Exon 3 mutations
kb = kilobases
MAOA = Monoamine Oxidase A
MAOB = Monoamine Oxidase B
Mb = Megabases
ND = Norrie Disease
NDP = Norrie Disease Pseudoglioma Gene
