Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the nervous system
Autosomal recessive
4q27
Pontocerebellar hypoplasia type 1D is an autosomal recessive neurologic disorder characterized by severe hypotonia and a motor neuronopathy apparent at birth or in infancy. Patients have respiratory insufficiency, feeding difficulties, and severely delayed or minimal gross motor development. Other features may include eye movement abnormalities, poor overall growth, contractures. Brain imaging shows progressive cerebellar atrophy with relative sparing of the brainstem. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 618065.1 | United Arab Emirates | Female | Yes | Yes | Global developmental delay; Failure to t... Global developmental delay; Failure to thrive; Short stature; Brachycephaly; Microcephaly; Cerebellar atrophy; Cerebellar vermis atrophy; Decreased intracranial pressure; Hypotonia; Ataxia; Dyskinesia; Hyperextensible hand joints; Ulnar deviation of the hand; Fibular deviation of toes; Facial hirsutism; Synophrys; Long eyelashes; Depressed nasal bridge; Short nose; Anteverted nares; Smooth philtrum; High palate; Micrognathia; Capillary hemangioma; Sacral dimple  | NM_005033.3:c.41T>C | Homozygous | Autosomal, Recessive | Bizzari et al. 2020 | The patient had 2 se... |
| 618065.2.1 | United Arab Emirates | Female | Yes | Yes | Global developmental delay; Hand clenchi... Global developmental delay; Hand clenching; Hypotonia; Nystagmus; Deep palmar crease; Hypoasparaginemia; Hypocystinemia; Cerebellar atrophy; Cerebellar vermis atrophy; Hyperintensity of cerebral white matter on MRI; Brachycephaly; Esodeviation; Posteriorly rotated ears; High palate | NM_005033.3:c.41T>C | Homozygous | Autosomal, Recessive | Bizzari et al. 2020 | The patient had 2 fi... |
| 618065.3.1 | Saudi Arabia | Female | Yes | Yes | Neonatal hypotonia; Microcephaly; Severe... Neonatal hypotonia; Microcephaly; Severe global developmental delay; Seizure; Abnormal facial shape; Axial hypotonia; Brain atrophy | NM_005033.3:c.41T>C | Homozygous | Autosomal, Recessive | Burns et al. 2018 | 'Individual 3:II-1' ... |