Phenotypes for disease #05683 (HPA (hyperphenylalaninemia (HPA)))

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AscendingPhenotype ID     
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Age/Onset     
Phenotype/Onset     
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0000210150 hyperphenylalaninemia HPANBH4 hyperphenylalaninemia; no developmental delay/intellectual disability; dystonia; no speech delay; axial hypotonia; no limb hypertonia; no Parkinsonism; nystagmus; no oculogyric crisis; no attention difficulties; no autistic features Familial, autosomal recessive - - - - Johan den Dunnen 00275529
0000210151 hyperphenylalaninemia HPANBH4 hyperphenylalaninemia; no developmental delay/intellectual disability; no dystonia; no speech delay; no axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; no attention difficulties; no autistic features Familial, autosomal recessive - - - - Johan den Dunnen 00275530
0000210152 hyperphenylalaninemia HPANBH4 hyperphenylalaninemia; developmental delay/intellectual disability; dystonia; no speech delay; no axial hypotonia; no limb hypertonia; Parkinsonism; no nystagmus; no oculogyric crisis; no attention difficulties; no autistic features Familial, autosomal recessive - - - - Johan den Dunnen 00275531
0000210153 hyperphenylalaninemia HPANBH4 hyperphenylalaninemia; no developmental delay/intellectual disability; no dystonia; no speech delay; no axial hypotonia; limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; attention difficulties; no autistic features Familial, autosomal recessive - - - - Johan den Dunnen 00275532
0000210154 hyperphenylalaninemia HPANBH4 hyperphenylalaninemia; developmental delay/intellectual disability; dystonia; speech delay; no axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; oculogyric crisis; no attention difficulties; no autistic features Familial, autosomal recessive - - - - Johan den Dunnen 00275533
0000210155 hyperphenylalaninemia HPANBH4 hyperphenylalaninemia; developmental delay/intellectual disability; dystonia; speech delay; no axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; autistic features Familial, autosomal recessive - - - - Johan den Dunnen 00275534
0000210156 hyperphenylalaninemia - dystonia; no speech delay; no intellectual disability; mild axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; attention difficulties Familial, autosomal recessive 13y - - - Johan den Dunnen 00275535
0000210157 hyperphenylalaninemia - no dystonia; no speech delay; no intellectual disability; mild axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; no attention difficulties Familial, autosomal recessive 11y - - - Johan den Dunnen 00275536
0000210158 hyperphenylalaninemia - no dystonia; no speech delay; no intellectual disability; no axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; no attention difficulties; autistic features Familial, autosomal recessive 25m - - - Johan den Dunnen 00275537
0000210159 hyperphenylalaninemia - no dystonia; no speech delay; no intellectual disability; mild axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; no attention difficulties; autistic features Familial, autosomal recessive 3y - - - Johan den Dunnen 00275538
0000210160 hyperphenylalaninemia - no dystonia; no speech delay; no intellectual disability; mild axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; no attention difficulties; autistic features Familial, autosomal recessive 10y - - - Johan den Dunnen 00275539
0000210163 hyperphenylalaninemia - see paper; ..., developmental delay, extrapyramidal movement disorder, persistently elevated plasma phenylalanine levels Familial, autosomal recessive - - - - Johan den Dunnen 00275542
0000210164 hyperphenylalaninemia - see paper; ... Familial, autosomal recessive 6y11m - - - Johan den Dunnen 00275543
0000210165 hyperphenylalaninemia - see paper; ... Familial, autosomal recessive 17y - - - Johan den Dunnen 00275544
0000210480 hyperphenylalaninemia HPANBH4 - Familial, autosomal recessive - - - - Johan den Dunnen 00275880
0000210481 hyperphenylalaninemia HPANBH4 - Familial, autosomal recessive - - - - Johan den Dunnen 00275881
0000210482 hyperphenylalaninemia HPANBH4 - Familial, autosomal recessive - - - - Johan den Dunnen 00275882
0000210483 hyperphenylalaninemia HPANBH4 - Familial, autosomal recessive - - - - Johan den Dunnen 00275883
0000210484 hyperphenylalaninemia HPANBH4 - Familial, autosomal recessive - - - - Johan den Dunnen 00275884
0000210485 hyperphenylalaninemia HPANBH4 - Familial, autosomal recessive - - - - Johan den Dunnen 00275885
0000210486 hyperphenylalaninemia HPANBH4 - Familial, autosomal recessive - - - - Johan den Dunnen 00275886
0000210487 hyperphenylalaninemia HPANBH4 - Familial, autosomal recessive - - - - Johan den Dunnen 00275887
0000210488 hyperphenylalaninemia HPANBH4 - Familial, autosomal recessive - - - - Johan den Dunnen 00275888
0000210489 hyperphenylalaninemia HPANBH4 - Familial, autosomal recessive - - - - Johan den Dunnen 00275889
0000294763 hyperphenylalaninemia HPABH4A yperphenylalaninaemia, monoamine neurotransmitter deficiency Familial, autosomal recessive - - - - Johan den Dunnen 00402000
0000294764 hyperphenylalaninemia HPABH4A found by neonatal screening Familial, autosomal recessive - - - - Johan den Dunnen 00402001
0000312084 hyperphenylalaninemia PKU hyperphenylalaninemia Familial, autosomal recessive - - - - Johan den Dunnen 00420837
0000312749 tetrahydrobiopterin deficient hyperphenylalaninemia HPABH4B - Familial, autosomal recessive - - - - Johan den Dunnen 00421513
0000312750 tetrahydrobiopterin deficient hyperphenylalaninemia HPABH4A - Familial, autosomal recessive - - - - Johan den Dunnen 00421514
0000312751 tetrahydrobiopterin deficient hyperphenylalaninemia HPABH4B - Familial, autosomal dominant - - - - Johan den Dunnen 00421515
0000312752 tetrahydrobiopterin deficient hyperphenylalaninemia HPABH4A - Familial, autosomal recessive - - - - Johan den Dunnen 00421516
0000312753 tetrahydrobiopterin deficient hyperphenylalaninemia HPABH4B - Familial, autosomal dominant - - - - Johan den Dunnen 00421517
0000312754 tetrahydrobiopterin deficient hyperphenylalaninemia HPABH4A - Familial, autosomal recessive - - - - Johan den Dunnen 00421518
0000312755 tetrahydrobiopterin deficient hyperphenylalaninemia HPABH4C - Familial, autosomal recessive - - - - Johan den Dunnen 00421519
0000312756 tetrahydrobiopterin deficient hyperphenylalaninemia HPABH4C - Familial, autosomal recessive - - - - Johan den Dunnen 00421520
0000312757 tetrahydrobiopterin deficient hyperphenylalaninemia HPABH4C - Familial, autosomal recessive - - - - Johan den Dunnen 00421521
0000312758 tetrahydrobiopterin deficient hyperphenylalaninemia HPABH4A - Familial, autosomal recessive - - - - Johan den Dunnen 00421522
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