Male
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000317.3:c.367C>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
261640.1 | Oman | Hyperphenylalaninemia; Delayed speech and language development; Eczema | Male | Yes | ||
261640.2 | Oman | Hyperphenylalaninemia; Failure to thrive; Eczema; Neonatal seizure | Female | Yes | ||
261640.3 | Oman | Hyperphenylalaninemia; Small for gestational age; Failure to thrive; Global developmental delay; Hypotonia; Hyperreflexia; Irritability; Seizure; Eczema | Female | Yes | ||
261640.4 | Oman | Hyperphenylalaninemia; Small for gestational age; Failure to thrive; Global developmental delay; Hypotonia; Hyperreflexia; Irritability; Microcephaly; Hypopigmentation of hair | Female | Yes | ||
261640.5 | Oman | Hyperphenylalaninemia; Motor delay | Male | Yes | ||
261640.6 | Oman | Hyperphenylalaninemia; Neonatal hypotonia; Small for gestational age; Microcephaly; Mild global developmental delay; Attention deficit hyperactivity disorder; Irritability; Abnormal brainstem MRI signal intensity | Male | Yes | ||
261640.7 | Oman | Hyperphenylalaninemia | Male | No | ||
261640.8 | Oman | Hyperphenylalaninemia | Female | Yes | ||
261640.9 | Oman | Hyperphenylalaninemia; Neonatal hypotonia; Global developmental delay; Irritability; Excessive salivation | Female | Yes | ||
261640.10 | Oman | Hyperphenylalaninemia; Global developmental delay; Excessive salivation; Hypotonia; Failure to thrive; Microcephaly | Male | Yes | ||
261640.11 | Oman | Hyperphenylalaninemia; Global developmental delay; Hypotonia; Temperature instability; Premature birth | Male | Yes | ||
261640.12 | Oman | 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 | Oman | Hyperphenylalaninemia; Eczema; Delayed speech and language development | Male | No | ||
261640.16 | Oman | Hyperphenylalaninemia; Lethargy; Irritability; Failure to thrive; Hypotonia; Hyperreflexia; Ptosis | Male | Yes | ||
261640.18 | Oman | Hyperphenylalaninemia; Dystonia; Small for gestational age; Microcephaly; Failure to thrive; Global developmental delay; Hypotonia; Hyperreflexia; Irritability; Ptosis; Lethargy | Female | Yes | ||
261640.19 | Oman | Hyperphenylalaninemia; Small for gestational age; Microcephaly; Global developmental delay; Hypotonia; Hyperreflexia; Irritability; Ptosis; Dystonia | Female | Yes | ||
261640.20 | Oman | 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 | Oman | 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 | Oman | 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 | Oman | Hyperphenylalaninemia; Seizure; Small for gestational age; Microcephaly; Failure to thrive; Hypotonia; Hyperreflexia; Irritability | Female | Yes |