TaoMedAI/RareMedData huggingface dataset:
Gene: PTS
Phenotype: Rigidity (HP:0002063)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Chorea (HP:0002072)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PTS
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PTS
Phenotype: Clonus (HP:0002169)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PTS
Phenotype: Opisthotonus (HP:0002179)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PTS
Phenotype: Oculogyric crisis (HP:0010553)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PTS
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Drowsiness (HP:0002329)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PTS
Phenotype: Neonatal onset (HP:0003623)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Hyperphenylalaninemia (HP:0004923)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Recurrent fever (HP:0001954)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Irritability (HP:0000737)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PTS
Phenotype: Depression (HP:0000716)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PTS
Phenotype: Restlessness (HP:0000711)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PTS
Phenotype: Agitation (HP:0000713)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PTS
Phenotype: Pallor (HP:0000980)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PTS
Phenotype: Microcephaly (HP:0000252)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Small for gestational age (HP:0001518)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Gene: PTS
Phenotype: Ptosis (HP:0000508)
Associated disease: Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency; 6-pyruvoyl-tetrahydropterin synthase deficiency (ORPHA:13)
Gene: PURA
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Motor delay (HP:0001270)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Seizure (HP:0001250)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: Seizure (HP:0001250)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: Ataxia (HP:0001251)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Inability to walk (HP:0002540)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Dystonia (HP:0001332)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: Myoclonus (HP:0001336)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: Myoclonus (HP:0001336)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Open mouth (HP:0000194)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: Hypoventilation (HP:0002791)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Deep philtrum (HP:0002002)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Frontal bossing (HP:0002007)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Respiratory distress (HP:0002098)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: Myopathic facies (HP:0002058)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Myopathic facies (HP:0002058)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: Polydactyly (HP:0010442)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Broad-based gait (HP:0002136)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Broad-based gait (HP:0002136)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: Apnea (HP:0002104)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Dyskinesia (HP:0100660)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Nystagmus (HP:0000639)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Anxiety (HP:0000739)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Short attention span (HP:0000736)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Childhood onset (HP:0011463)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: Short nose (HP:0003196)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Handgrip myotonia (HP:0012899)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Epicanthus (HP:0000286)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Full cheeks (HP:0000293)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Long face (HP:0000276)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Microcephaly (HP:0000252)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: High palate (HP:0000218)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: High palate (HP:0000218)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: High palate (HP:0000218)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Speech apraxia (HP:0011098)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Incisor macrodontia (HP:0011081)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Abnormality of primary teeth (HP:0006481)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Low-set ears (HP:0000369)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Narrow forehead (HP:0000341)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: High forehead (HP:0000348)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Micrognathia (HP:0000347)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Anteverted nares (HP:0000463)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Delayed myelination (HP:0012448)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Telecanthus (HP:0000506)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Telecanthus (HP:0000506)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: Telecanthus (HP:0000506)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Ptosis (HP:0000508)
Associated disease: Monosomy 5q31.3; 5q31.3 microdeletion syndrome; Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion; Del(5)(q31.3) (ORPHA:314655)
Gene: PURA
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Prominent forehead (HP:0011220)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: PURA
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: Esotropia (HP:0000565)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
Gene: PURA
Phenotype: Myopia (HP:0000545)
Associated disease: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation (ORPHA:438216)
Gene: NECTIN1
Phenotype: Pili torti (HP:0003777)
Associated disease: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME (OMIM:225060)
Gene: NECTIN1
Phenotype: Pili torti (HP:0003777)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)
Gene: NECTIN1
Phenotype: Seizure (HP:0001250)
Associated disease: Zlotogora-Ogur syndrome; Cleft lip/palate-syndactyly-pili torti syndrome; Cleft lip/palate-ectodermal dysplasia syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; CLPED1 (ORPHA:3253)