Table 1.
Features (Human Phenotype Ontology ID) | Proband |
---|---|
Epilepsy | |
Epileptic encephalopathy (HP:0200134) | + |
Generalized tonic seizures (HP:0010818) | + |
Generalized tonic-clonic seizures on awakening (HP:0007193) | + |
EEG abnormality (HP:0002353) | + |
Developmental/intellectual disability | |
Global developmental delay (HP:0001263) | + |
Developmental stagnation at onset of seizures (HP:0006834) | + |
Developmental regression (HP:0002376) | + |
Absent speech (HP:0001344) | + |
Intellectual disability, severe (HP:0010864) | + |
Motor delay (HP:0001270) | + |
Neurological | |
Generalized hypotonia (HP:0001290) | + |
Appendicular hypotonia (HP:0012389) | + |
Infantile axial hypotonia (HP:0009062) | + |
Neck muscle weakness (HP:0000467) | + |
Rigidity (HP:0002063) | + |
Spasticity (HP:0001257) | + |
Growth/feeding | |
Failure to thrive in infancy (HP:0001531) | + |
Gastrostomy tube feeding in infancy (HP:0011471) | + |
Gastroesophageal reflux (HP:0002020) | + |
Dysphagia (HP:0002015) | + |
Respiratory | |
Respiratory difficulties (HP:0002880) | + |
Hypoxemia (HP:0012418) | + |
Abnormality of the tonsils (HP:0100765) | + |
Obstructive sleep apnea (HP:0002870) | + |
Dysmorphism | |
Brachycephaly (HP:0000248) | + |
Broad forehead (HP:0000337) | + |
Broad nasal root or bridge (HP:0000431) | + |
Hypoplastic alae nasi (HP:0000430) | + |
Full cheeks (HP:0000293) | + |
Gingival overgrowth (HP:0000212) | + |
Micrognathia (mild) (HP:0000347) | + |
Hypotonic facies | + |
Neurological | |
Exaggerated startle response (HP:0002267) | + |
Action tremor (HP:0002345) | + |
Blepharospasm (HP:0000643) | + |
Bulbar palsy (HP:0001283) | + |
Nystagmus (HP:0000639) | + |
Miscellaneous | |
Hyperreflexia (HP:0001347) | + |
No social interaction (HP:0008763) | + |
EEG, electroencephalograph.