Seckel syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, severe microcephaly with mental retardation, and specific dysmorphic features. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
13q12.12-q12.13
Seckel syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, severe microcephaly with mental retardation, and specific dysmorphic features. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 613676.3.1 | Saudi Arabia | Female | No | Yes | Microcephaly; Short stature; Intrauterin... Microcephaly; Short stature; Intrauterine growth retardation; Convex nasal ridge; Underdeveloped nasal alae; Retrognathia; High forehead; Prominent nasal bridge; Low-set ears  | NM_018451.4:c.3302-1G>C | Homozygous | Autosomal, Recessive | Shaheen et al. 2019; Al-Dosari et al. 2010 | |
| 613676.3.2 | Saudi Arabia | Female | No | Yes | Microcephaly; Short stature; Intrauterin... Microcephaly; Short stature; Intrauterine growth retardation; Convex nasal ridge; Underdeveloped nasal alae; Retrognathia; High forehead; Prominent nasal bridge; Low-set ears | NM_018451.4:c.3302-1G>C | Homozygous | Autosomal, Recessive | Shaheen et al. 2019; Al-Dosari et al. 2010 | Sibling of 608393.3.... |
| 613676.3.3 | Saudi Arabia | Male | No | Yes | Microcephaly; Short stature; Intrauterin... Microcephaly; Short stature; Intrauterine growth retardation; Convex nasal ridge; Underdeveloped nasal alae; Retrognathia; High forehead; Prominent nasal bridge; Low-set ears | NM_018451.4:c.3302-1G>C | Homozygous | Autosomal, Recessive | Shaheen et al. 2019; Al-Dosari et al. 2010 | Relative of 608393.3... |
| 613676.3.4 | Saudi Arabia | Female | No | Yes | Microcephaly; Short stature; Intrauterin... Microcephaly; Short stature; Intrauterine growth retardation; Convex nasal ridge; Underdeveloped nasal alae; Retrognathia; High forehead; Prominent nasal bridge; Low-set ears | NM_018451.4:c.3302-1G>C | Homozygous | Autosomal, Recessive | Shaheen et al. 2019; Al-Dosari et al. 2010 | Relative of 608393.3... |
| 613676.3.5 | Saudi Arabia | Female | No | Yes | Microcephaly; Short stature; Intrauterin... Microcephaly; Short stature; Intrauterine growth retardation; Convex nasal ridge; Underdeveloped nasal alae; Retrognathia; High forehead; Prominent nasal bridge; Low-set ears | NM_018451.4:c.3302-1G>C | Homozygous | Autosomal, Recessive | Shaheen et al. 2019; Al-Dosari et al. 2010 | Relative of 608393.3... |
| 613676.3.6 | Saudi Arabia | Male | No | Yes | Microcephaly; Short stature; Intrauterin... Microcephaly; Short stature; Intrauterine growth retardation; Convex nasal ridge; Underdeveloped nasal alae; Retrognathia; High forehead; Prominent nasal bridge; Low-set ears | NM_018451.4:c.3302-1G>C | Homozygous | Autosomal, Recessive | Shaheen et al. 2019 | Relative of 608393.3... |
| 613676.3.7 | Saudi Arabia | Female | No | Yes | Microcephaly; Short stature; Intrauterin... Microcephaly; Short stature; Intrauterine growth retardation; Convex nasal ridge; Underdeveloped nasal alae; Retrognathia; High forehead; Prominent nasal bridge; Low-set ears | NM_018451.4:c.3302-1G>C | Homozygous | Autosomal, Recessive | Shaheen et al. 2019 | Relative of 608393.3... |