| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hypotrichosis Type 7 (LIPH) | Hypotrichosis | Autosomal Recessive | 3q27.2 | Deletion | LIPH | 346_350delATATA | Ile116Tyrfs*5 | Frame shift mutation & PTC | 0/Ali et al.,2007 |
| Hypotrichosis Type 7 (LIPH) | Hypotrichosis | Autosomal Recessive | 3q27.2 | Deletion | LIPH | 659_660TA | Ile220Argfs*29 | Frame shift mutation & PTC | 0/Jelani et al., 2008 |
| Hypotrichosis Type 7 (LIPH) | Hypotrichosis | Autosomal Recessive | 3q27.2 | Deletion | LIPH | 682delT | Leu228Trpfs*32 | Frame shift mutation & PTC | 0/Naqvi et al., 2009 |
| Hypotrichosis Type 7 (LIPH) | Hypotrichosis | Autosomal Recessive | 3q27.2 | Missense | LIPH | 2T>C | Met1Thr | Amino Acid Substitution | 0/Naz et al., 2009 |
| Hypotrichosis Type 7 (LIPH) | Hypotrichosis | Autosomal Recessive | 3q27.2 | Missense | LIPH | 322T>C | Trp108Arg | Amino Acid Substitution | 0/Naz et al., 2009 |
| Hypotrichosis Type 7 (LIPH) | Hypotrichosis | Autosomal Recessive | 3q27.2 | Splice site | LIPH | IVS4-1G>C | Exon 5 skipping | Frame shift mutation & PTC | 0/Kalsoom et al., 2010 |
| Hypotrichosis Type 7 (LIPH) | Hypotrichosis | Autosomal Recessive | 3q27.2 | Nonsense | LIPH | 778A>T | Arg260* | Premature Termination | 0/Tariq et al., 2012 |
| Hypotrichosis Type 7 (LIPH) | Hypotrichosis | Autosomal Recessive | 3q27.2 | Nonsense | LIPH | 328C>T | Arg110* | Premature Termination | 0/Mehmood et al., 2015 |
| Hypotrichosis Type 7 (LIPH) | Hypotrichosis | Autosomal Recessive | 3q27.2 | Deletion | LIPH | 932delC | Pro311Leufs*3 | Frame shift mutation & PTC | 0/Mehmood et al., 2016 |
| Hypotrichosis Type 7 (LIPH) | Hypotrichosis/wooly hair | Autosomal Recessive | 3q27.2 | Duplication | LIPH | 280_369dup90 | Gly94_Lys123dup | Frame shift mutation | 0/Petukhova et al., 2009 |
| Hypotrichosis Type 7 (LIPH) | Hypotrichosis/wooly hair | Autosomal Recessive | 3q27.2 | Deletion | LIPH | 624delT | Frame shift mutation | 0/Shimomura et al., 2009 | |
| Hypotrichosis Type 7 (LIPH) | Hypotrichosis/wooly hair | Autosomal Recessive | 3q27.2 | Deletion | LIPH | Ex7_8del | Frame shift mutation | 0/Shimomura et al., 2009 |
