Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of eye, ear, face and neck
Autosomal recessive
14q24.3
Microspherophakia (MSP) is a rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. Lens dislocation or subluxation may occur, leading to defective accommodation. Microspherophakia may occur in association with ectopia lentis and glaucoma, Marfan syndrome, and Weill-Marchesani syndrome. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 251750.1.1 | Saudi Arabia | Male | Yes | Yes | Pendular nystagmus; Lens subluxation; Me... Pendular nystagmus; Lens subluxation; Megalocornea; Glaucoma  | NM_000428.3:c.1012del | Homozygous | Autosomal, Recessive | Khan 2011 | Patient from 'family... |
| 251750.1.4 | Saudi Arabia | Male | Yes | Yes | Lens subluxation; Megalocornea; Glaucoma... Lens subluxation; Megalocornea; Glaucoma; Retinal detachment | NM_000428.3:c.1012del | Homozygous | Autosomal, Recessive | Khan 2011 | Cousin of 251750.1.1 |
| 251750.2.1 | Saudi Arabia | Male | Yes | Yes | Pendular nystagmus; Lens subluxation; Me... Pendular nystagmus; Lens subluxation; Megalocornea; Glaucoma; Microspherophakia; Iridodonesis | NM_000428.3:c.4855C>T | Homozygous | Autosomal, Recessive | Khan 2011 | Patient from 'family... |
| 251750.2.2 | Saudi Arabia | Male | Yes | Yes | Megalocornea; Glaucoma; Microspherophakia Megalocornea; Glaucoma; Microspherophakia | NM_000428.3:c.4855C>T | Homozygous | Autosomal, Recessive | Khan 2011 | Brother of 251750.2.... |
| 251750.3.1 | Saudi Arabia | Male | Yes | Yes | Lens subluxation; Megalocornea; Glaucoma Lens subluxation; Megalocornea; Glaucoma | NM_000428.3:c.4313G>A | Homozygous | Autosomal, Recessive | Khan 2011 | Patient from 'family... |
| 251750.3.2 | Saudi Arabia | Male | Yes | Yes | Megalocornea; Glaucoma; Microspherophaki... Megalocornea; Glaucoma; Microspherophakia; Iridodonesis | NM_000428.3:c.4313G>A | Homozygous | Autosomal, Recessive | Khan 2011 | Brother of 251750.3... |
| 251750.3.3 | Saudi Arabia | Male | Yes | Yes | Glaucoma; Phthisis bulbi; Pectus excavatum Glaucoma; Phthisis bulbi; Pectus excavatum | NM_000428.3:c.4313G>A | Homozygous | Autosomal, Recessive | Khan 2011 | Father of 251750.3.1 |
| 251750.3.5 | Saudi Arabia | Female | Yes | Yes | Megalocornea; Glaucoma; Iridodonesis; Uv... Megalocornea; Glaucoma; Iridodonesis; Uveal ectropion; Ectopia lentis; Abnormality of the optic nerve | NM_000428.3:c.4313G>A | Homozygous | Autosomal, Recessive | Khan 2011 | Paternal aunt of 251... |