Male
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000317.3:c.238A>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 261640.1 | Saudi Arabia | Hyperphenylalaninemia; Delayed speech and language development; Eczema | Male | Yes | ||
| 261640.2 | Saudi Arabia | Hyperphenylalaninemia; Failure to thrive; Eczema; Neonatal seizure | Female | Yes | ||
| 261640.3 | Saudi Arabia | Hyperphenylalaninemia; Small for gestational age; Failure to thrive; Global developmental delay; Hypotonia; Hyperreflexia; Irritability; Seizure; Eczema | Female | Yes | ||
| 261640.4 | Saudi Arabia | Hyperphenylalaninemia; Small for gestational age; Failure to thrive; Global developmental delay; Hypotonia; Hyperreflexia; Irritability; Microcephaly; Hypopigmentation of hair | Female | Yes | ||
| 261640.5 | Saudi Arabia | Hyperphenylalaninemia; Motor delay | Male | Yes | ||
| 261640.6 | Saudi Arabia | Hyperphenylalaninemia; Neonatal hypotonia; Small for gestational age; Microcephaly; Mild global developmental delay; Attention deficit hyperactivity disorder; Irritability; Abnormal brainstem MRI signal intensity | Male | Yes | ||
| 261640.8 | Saudi Arabia | Hyperphenylalaninemia | Female | Yes | ||
| 261640.9 | Saudi Arabia | Hyperphenylalaninemia; Neonatal hypotonia; Global developmental delay; Irritability; Excessive salivation | Female | Yes | ||
| 261640.10 | Saudi Arabia | Hyperphenylalaninemia; Global developmental delay; Excessive salivation; Hypotonia; Failure to thrive; Microcephaly | Male | Yes | ||
| 261640.11 | Saudi Arabia | Hyperphenylalaninemia; Global developmental delay; Hypotonia; Temperature instability; Premature birth | Male | Yes | ||
| 261640.12 | Saudi Arabia | Hyperphenylalaninemia; Global developmental delay; Hypotonia; Temperature instability; Premature birth; Seizure; Attention deficit hyperactivity disorder; Hyperreflexia; Ptosis; Reduced cerebral white matter volume | Female | Yes | ||
| 261640.13 | Saudi Arabia | Hyperphenylalaninemia; Eczema; Delayed speech and language development | Male | No | ||
| 261640.16 | Saudi Arabia | Hyperphenylalaninemia; Lethargy; Irritability; Failure to thrive; Hypotonia; Hyperreflexia; Ptosis | Male | Yes | ||
| 261640.17 | Saudi Arabia | Hyperphenylalaninemia; Dystonia; Small for gestational age; Microcephaly; Failure to thrive; Global developmental delay; Hypotonia; Hyperreflexia; Oculogyric crisis; Irritability; Ptosis; Malignant hyperthermia | Male | Yes | ||
| 261640.18 | Saudi Arabia | Hyperphenylalaninemia; Dystonia; Small for gestational age; Microcephaly; Failure to thrive; Global developmental delay; Hypotonia; Hyperreflexia; Irritability; Ptosis; Lethargy | Female | Yes | ||
| 261640.19 | Saudi Arabia | Hyperphenylalaninemia; Small for gestational age; Microcephaly; Global developmental delay; Hypotonia; Hyperreflexia; Irritability; Ptosis; Dystonia | Female | Yes | ||
| 261640.20 | Saudi Arabia | Hyperphenylalaninemia; Small for gestational age; Global developmental delay; Hypotonia; Neonatal seizure; Failure to thrive; Abnormal cerebral white matter morphology; Cerebral atrophy; Eczema; Hypopigmentation of hair | Female | Yes | ||
| 261640.22 | Saudi Arabia | Hyperphenylalaninemia; Small for gestational age; Failure to thrive; Global developmental delay; Hypotonia; Hyperreflexia; Irritability; Seizure; Eczema; Microcephaly; Ptosis; Excessive salivation; Hypopigmentation of hair | Female | Yes | ||
| 261640.23 | Saudi Arabia | Hyperphenylalaninemia; Small for gestational age; Failure to thrive; Global developmental delay; Hypotonia; Hyperreflexia; Irritability; Seizure; Eczema; Microcephaly; Ptosis; Excessive salivation; Hypopigmentation of hair; Seizure; Delayed myelination | Female | Yes | ||
| 261640.24 | Saudi Arabia | Hyperphenylalaninemia; Seizure; Small for gestational age; Microcephaly; Failure to thrive; Hypotonia; Hyperreflexia; Irritability | Female | Yes |