Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
12p13.31
Temtamy syndrome is a mental retardation/multiple congenital anomaly syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus [From OMIM].
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 218340.1.1 | United Arab Emirates | Female | Yes | Yes | Abnormal facial shape; Hypotonia; Intell... Abnormal facial shape; Hypotonia; Intellectual disability; Autistic behavior  | NM_138425.4:c.1A>G | Homozygous | Autosomal, Recessive | Akizu et al. 2013 | Proband. Parents are... |
| 218340.1.2 | United Arab Emirates | Female | Yes | Yes | Abnormal facial shape; Hypotonia; Intell... Abnormal facial shape; Hypotonia; Intellectual disability; Autistic behavior; Seizure; EEG Abnormality | NM_138425.4:c.1A>G | Homozygous | Autosomal, Recessive | Akizu et al. 2013 | Sister of proband. |
| 218340.1.3 | United Arab Emirates | Female | Yes | Yes | Abnormal facial shape; Hypotonia; Intell... Abnormal facial shape; Hypotonia; Intellectual disability; Autistic behavior; Seizure; EEG Abnormality; Hypoplasia of the corpus callosum; Abnormal thalamic size; Ventriculomegaly; Abnormal cerebral white matter morphology; Abnormality of the septum pellucidum; Hypoplastic anterior commissure | NM_138425.4:c.1A>G | Homozygous | Autosomal, Recessive | Akizu et al. 2013 | Sister of proband. |
| 218340.2.1 | Kuwait | Female | Yes | Yes | Hypotonia; Intellectual disability; Auti... Hypotonia; Intellectual disability; Autistic behavior; Seizure; Hypoplasia of the corpus callosum; Abnormal thalamic size; Abnormal cerebral white matter morphology; Abnormality of the septum pellucidum | NM_138425.4:c.1A>G | Homozygous | Autosomal, Recessive | Akizu et al. 2013 | Proband. Parents are... |
| 218340.2.2 | Kuwait | Male | Yes | Yes | Hypotonia; Intellectual disability; Auti... Hypotonia; Intellectual disability; Autistic behavior; Seizure; Hypoplasia of the corpus callosum; Abnormal thalamic size; Abnormal cerebral white matter morphology; Abnormality of the septum pellucidum; Hypoplastic anterior commissure ; Ventriculomegaly; Abnormality of pattern onset/offset visual evoked potentials; Atrial septal defect; Spasticity; EEG abnormality | NM_138425.4:c.1A>G | Homozygous | Autosomal, Recessive | Akizu et al. 2013 | Sibling of proband. |
| 218340.2.3 | Kuwait | Female | Yes | Yes | Hypotonia; Intellectual disability; Auti... Hypotonia; Intellectual disability; Autistic behavior; Seizure; Agenesis of corpus callosum; Abnormal thalamic size; Abnormal cerebral white matter morphology; Abnormality of the septum pellucidum; Esotropia; Atrial septal defect; Spasticity; Pulmonic stenosis; Conductive hearing impairment | NM_138425.4:c.1A>G | Homozygous | Autosomal, Recessive | Akizu et al. 2013 | Sibling of proband. |
| 218340.3.1 | Libya | Male | Yes | Yes | Abnormal facial shape; Intellectual disa... Abnormal facial shape; Intellectual disability; Autistic behavior; Seizure; EEG Abnormality; Hypoplasia of the corpus callosum; Abnormal thalamic size; Abnormal cerebral white matter morphology; Abnormality of the septum pellucidum; Hypoplastic anterior commissure; Spasticity; Atrial septal defect | NM_138425.4:c.1A>G | Homozygous | Autosomal, Recessive | Akizu et al. 2013 | Proband. |
| 218340.3.2 | Libya | Male | Yes | Yes | Abnormal facial shape; Intellectual disa... Abnormal facial shape; Intellectual disability; Autistic behavior; Hypotonia; Agenesis of corpus callosum; Abnormal thalamic size; Abnormal cerebral white matter morphology; Abnormality of the septum pellucidum; Atrial septal defect; Ventriculomegaly; Optic atrophy | NM_138425.4:c.1A>G | Homozygous | Autosomal, Recessive | Akizu et al. 2013 | Sibling of proband. |
| 218340.4.1 | Palestine | Male | Yes | Yes | Abnormal facial shape; Intellectual disa... Abnormal facial shape; Intellectual disability; Autistic behavior; Seizure; Spasticity; Abnormality of toe; Hyperglycemia; Hypoplasia of the corpus callosum; Abnormal thalamic size; Abnormal cerebral white matter morphology; Abnormality of the septum pellucidum; Atrial septal defect; Ventriculomegaly; Optic atrophy | NM_138425.4:c.1A>G | Homozygous | Autosomal, Recessive | Akizu et al. 2013 | Proband. |
| 218340.4.2 | Palestine | Female | Yes | Yes | Abnormal facial shape; Hypotonia; Microc... Abnormal facial shape; Hypotonia; Microcephaly; Microphthalmia; Iris coloboma; Intellectual disability; Autistic behavior; Seizure; Spasticity; Diabetes mellitus; Abnormality of toe; Agenesis of corpus callosum; Abnormal thalamic size; Hypoplastic anterior commissure; Abnormal third ventricle morphology; Abnormal cerebral white matter morphology; Atrial septal defect; Ventriculomegaly; Optic atrophy | NM_138425.4:c.1A>G | Homozygous | Autosomal, Recessive | Akizu et al. 2013 | Sibling of proband. |
| 218340.5 | Saudi Arabia | Unknown | Yes | Global developmental delay ; Autistic be... Global developmental delay ; Autistic behavior; Generalized hypotonia; Delayed speech and language development; Delayed gross motor development ; Atrial septal defect; Seizure | NM_138425.4:c.53-2A>G | Homozygous | Autosomal, Recessive | Alrakaf et al. 2018 | ||
| 218340.6 | Saudi Arabia | Unknown | Yes | Global developmental delay ; Autistic be... Global developmental delay ; Autistic behavior; Generalized hypotonia; Delayed speech and language development; Delayed gross motor development ; Atrial septal defect; Microcornea ; Hyperopic astigmatism ; Abnormal retinal morphology | NM_138425.4:c.53-2A>G | Homozygous | Autosomal, Recessive | Alrakaf et al. 2018 | ||
| 218340.7 | Saudi Arabia | Unknown | Yes | Global developmental delay ; Autistic be... Global developmental delay ; Autistic behavior; Generalized hypotonia; Delayed speech and language development; Delayed gross motor development ; Atrial septal defect; Abnormal facial shape | NM_138425.4:c.53-2A>G | Homozygous | Autosomal, Recessive | Alrakaf et al. 2018 | ||
| 218340.8 | Saudi Arabia | Unknown | Yes | Global developmental delay ; Generalized... Global developmental delay ; Generalized hypotonia; Absent speech; Delayed speech and language development ; Spasticity ; Delayed gross motor development; Abnormal facial shape | NM_138425.3:c.-3_2delinsG | Homozygous | Autosomal, Recessive | Alrakaf et al. 2018 | ||
| 218340.9 | Saudi Arabia | Unknown | Yes | Global developmental delay ; Seizure ; A... Global developmental delay ; Seizure ; Autistic behavior; Generalized hypotonia; Delayed speech and language development ; Spasticity ; Delayed gross motor development; Abnormal facial shape ; Ventriculomegaly | NM_138425.3:c.-3_2delinsG | Homozygous | Autosomal, Recessive | Alrakaf et al. 2018 | ||
| 218340.10 | Oman | Unknown | Yes | Global developmental delay ; Seizure ; G... Global developmental delay ; Seizure ; Generalized hypotonia; Delayed speech and language development ; Absent speech; Delayed gross motor development; Abnormal facial shape | NM_138425.4:c.43C>T | Homozygous | Autosomal, Recessive | Alrakaf et al. 2018 | ||
| 218340.11 | Oman | Unknown | Yes | Global developmental delay ; Seizure ; G... Global developmental delay ; Seizure ; Generalized hypotonia; Delayed speech and language development ; Absent speech; Delayed gross motor development; Abnormal facial shape | NM_138425.4:c.43C>T | Homozygous | Autosomal, Recessive | Alrakaf et al. 2018 | ||
| 218340.12 | Oman | Unknown | Yes | Global developmental delay ; Generalized... Global developmental delay ; Generalized hypotonia; Delayed speech and language development ; Absent speech; Delayed gross motor development; Abnormal facial shape | NM_138425.3:c.229+2T>C | Homozygous | Autosomal, Recessive | Alrakaf et al. 2018 | ||
| 218340.13.1 | Saudi Arabia | Male | Yes | Yes | Hypertonia; Chorioretinal coloboma; Seiz... Hypertonia; Chorioretinal coloboma; Seizure; Profound global developmental delay; Bilateral tonic-clonic seizure with generalized onset; Microphthalmia; Agenesis of corpus callosum | NM_138425.4:c.1A>G | Homozygous | Autosomal, Recessive | Zahrani et al. 2013 | |
| 218340.13.2 | Saudi Arabia | Male | Yes | Yes | Hypertonia; Chorioretinal coloboma; Glob... Hypertonia; Chorioretinal coloboma; Global developmental delay; Seizure; Poor visual behavior for age; Thick corpus callosum | NM_138425.4:c.1A>G | Homozygous | Autosomal, Recessive | Zahrani et al. 2013 | Sibling of 218340.13... |
| 218340.13.3 | Saudi Arabia | Female | Yes | Yes | Hypertonia; Seizure; Profound global dev... Hypertonia; Seizure; Profound global developmental delay | NM_138425.4:c.1A>G | Homozygous | Autosomal, Recessive | Zahrani et al. 2013 | Sibling of 218340.13... |
| 218340.13.4 | Saudi Arabia | Male | Yes | Yes | Seizure; Agenesis of corpus callosum Seizure; Agenesis of corpus callosum | NM_138425.4:c.1A>G | Homozygous | Autosomal, Recessive | Zahrani et al. 2013 | Sibling of 218340.13... |
| 218340.14.1 | Saudi Arabia | Female | No | Seizure; Profound global developmental d... Seizure; Profound global developmental delay; Microphthalmia; Chorioretinal coloboma | NM_138425.4:c.1A>G, NM_138425.4:c.152T>A | Compound heterozygous | Autosomal, Recessive | Zahrani et al. 2013; Patel et al. 2018 | Parents belong to th... | |
| 218340.15.1 | Jordan | Female | Yes | Yes | Global developmental delay; Intellectual... Global developmental delay; Intellectual disability; Delayed speech and language development; Brain atrophy; Macrocephaly; Hypotonia | NM_138425.4:c.33G>C | Homozygous | Autosomal, Recessive | Froukh. 2017 | Parents had five spo... |
| 218340.16 | Saudi Arabia | Male | Yes | Microcephaly; Delayed gross motor develo... Microcephaly; Delayed gross motor development; Delayed fine motor development; Delayed speech and language development; Intellectual disability; Hypotonia | NM_138425.4:c.1A>G | Homozygous | Autosomal, Recessive | Monies et al. 2019 | ||
| 218340.17 | Saudi Arabia | Female | No | Hypotonia; Autism; Seizure Hypotonia; Autism; Seizure | NM_138425.4:c.1A>G | Homozygous | Autosomal, Recessive | Monies et al. 2019 | ||
| 218340.18 | Saudi Arabia | Male | Yes | Intellectual disability, severe Intellectual disability, severe | NM_138425.4:c.1A>G | Homozygous | Autosomal, Recessive | Monies et al. 2019 | ||
| 218340.19 | Saudi Arabia | Male | Atrial septal defect; Ventricular septal... Atrial septal defect; Ventricular septal defect; Coloboma; Seizure | NM_138425.4:c.53-2A>G | Homozygous | Autosomal, Recessive | Monies et al. 2019 | |||
| 218340.20.1 | Saudi Arabia | Male | Yes | Intellectual disability; Global developm... Intellectual disability; Global developmental delay; Hydronephrosis; Vesicoureteral reflux; Unilateral renal atrophy | NM_138425.4:c.53-2A>G | Homozygous | Autosomal, Recessive | Charng et al. 2016 | Proband from 'family... | |
| 218340.21 | United Arab Emirates | Male | Yes | Yes | Abnormal facial shape; Global developmen... Abnormal facial shape; Global developmental delay; Intellectual disability | NM_138425.4:c.1A>G | Homozygous | Autosomal, Recessive | Saleh et al. 2021 | Affected cousin |
| 218340.22 | Saudi Arabia | Female | Yes | Yes | Intellectual disability; Delayed speech ... Intellectual disability; Delayed speech and language development | NM_138425.4:c.1A>G | Homozygous | Autosomal, Recessive | Monies et al. 2017 | Patient has two affe... |
| 218340.23 | Saudi Arabia | Female | Global developmental delay; Seizure; Aut... Global developmental delay; Seizure; Autism | NM_138425.4:c.1A>G | Homozygous | Autosomal, Recessive | Monies et al. 2017 | |||
| 218340.24 | Saudi Arabia | Male | No | No | Autism; Hypotonia; Neurodevelopmental de... Autism; Hypotonia; Neurodevelopmental delay | NM_138425.4:c.1A>G | Homozygous | Autosomal, Recessive | Monies et al. 2017 | |
| 218340.25 | Saudi Arabia | Male | Yes | Yes | Severe global developmental delay; Seizu... Severe global developmental delay; Seizure; Developmental regression; Macrocephaly | NM_138425.4:c.43C>T | Homozygous | Autosomal, Recessive | Monies et al. 2017 | Patient has a simila... |
| 218340.26 | Saudi Arabia | Female | Yes | Yes | Intellectual disability; Delayed speech ... Intellectual disability; Delayed speech and language development; Motor delay; Abnormal facial shape; Hydronephrosis; Abnormal corpus callosum morphology | NM_138425.4:c.1A>G | Homozygous | Autosomal, Recessive | Monies et al. 2017 | |
| 218340.27 | Saudi Arabia | Male | Yes | Global developmental delay; Visual loss Global developmental delay; Visual loss | NM_138425.4:c.1A>G | Homozygous | Autosomal, Recessive | Monies et al. 2017 | ||
| 218340.28 | Saudi Arabia | Male | Failure to thrive; Intellectual disabili... Failure to thrive; Intellectual disability; Agenesis of corpus callosum; Seizure | NM_138425.4:c.53-2A>G | Homozygous | Autosomal, Recessive | Monies et al. 2017 | |||
| 218340.G.1 | Saudi Arabia | Unknown | Yes | Global developmental delay; Absent speec... Global developmental delay; Absent speech; Seizure; Autistic behavior; Generalized hypotonia; Delayed speech and language development; Spasticity; Delayed gross motor development; Microphthalmia; Coloboma; Abnormal facial shape | NM_138425.4:c.1A>G | Homozygous | Autosomal, Recessive | Alrakaf et al. 2018; Patel et al. 2018 | Group of 15 Saudi Ar... | |
| 218340.G.2 | Syria | Male | Yes | Yes | Intellectual disability, severe; Hypoton... Intellectual disability, severe; Hypotonia; Bruxism; Abnormal facial shape; Visual impairment; Microphthalmia; Nystagmus; Cerebral atrophy; Leukodystrophy | NM_138425.4:c.1A>G | Homozygous | Autosomal, Recessive | Reuter et al. 2017 | 2 members of a famil... |