TaoMedAI/RareMedData huggingface dataset:
Gene: PANK2
Phenotype: Abnormality of the tongue (HP:0000157)
Associated disease: NBIA1, classic form; PKAN, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; Classic pantothenate kinase-associated neurodegeneration (ORPHA:216866)
Gene: PANK2
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PANK2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PANK2
Phenotype: Dysphagia (HP:0002015)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)
Gene: PANK2
Phenotype: Dysphagia (HP:0002015)
Associated disease: NBIA1, classic form; PKAN, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; Classic pantothenate kinase-associated neurodegeneration (ORPHA:216866)
Gene: PANK2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)
Gene: PANK2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: NBIA1, classic form; PKAN, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; Classic pantothenate kinase-associated neurodegeneration (ORPHA:216866)
Gene: PANK2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Rigidity (HP:0002063)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Rigidity (HP:0002063)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)
Gene: PANK2
Phenotype: Chorea (HP:0002072)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Chorea (HP:0002072)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)
Gene: PANK2
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Babinski sign (HP:0003487)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)
Gene: PANK2
Phenotype: Opisthotonus (HP:0002179)
Associated disease: NBIA1, classic form; PKAN, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; Classic pantothenate kinase-associated neurodegeneration (ORPHA:216866)
Gene: PANK2
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Impulsivity (HP:0100710)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)
Gene: PANK2
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: NBIA1, classic form; PKAN, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; Classic pantothenate kinase-associated neurodegeneration (ORPHA:216866)
Gene: PANK2
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: NBIA1, classic form; PKAN, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; Classic pantothenate kinase-associated neurodegeneration (ORPHA:216866)
Gene: PANK2
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: NBIA1, classic form; PKAN, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; Classic pantothenate kinase-associated neurodegeneration (ORPHA:216866)
Gene: PANK2
Phenotype: Frequent falls (HP:0002359)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)
Gene: PANK2
Phenotype: Frequent falls (HP:0002359)
Associated disease: NBIA1, classic form; PKAN, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; Classic pantothenate kinase-associated neurodegeneration (ORPHA:216866)
Gene: PANK2
Phenotype: Poor coordination (HP:0002370)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Clumsiness (HP:0002312)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)
Gene: PANK2
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Akinesia (HP:0002304)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PANK2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Palilalia (HP:0031814)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)
Gene: PANK2
Phenotype: Blepharospasm (HP:0000643)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Blindness (HP:0000618)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)
Gene: PANK2
Phenotype: Blindness (HP:0000618)
Associated disease: NBIA1, classic form; PKAN, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; Classic pantothenate kinase-associated neurodegeneration (ORPHA:216866)
Gene: PANK2
Phenotype: Acanthocytosis (HP:0001927)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Iron accumulation in brain (HP:0012675)
Associated disease: NBIA1, classic form; PKAN, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; Classic pantothenate kinase-associated neurodegeneration (ORPHA:216866)
Gene: PANK2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PANK2
Phenotype: Eyelid apraxia (HP:0000658)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Focal dystonia (HP:0004373)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)
Gene: PANK2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Cough (HP:0012735)
Associated disease: NBIA1, classic form; PKAN, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; Classic pantothenate kinase-associated neurodegeneration (ORPHA:216866)
Gene: PANK2
Phenotype: Phonic tics (HP:0100035)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Motor tics (HP:0100034)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Irritability (HP:0000737)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)
Gene: PANK2
Phenotype: Depression (HP:0000716)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Depression (HP:0000716)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)
Gene: PANK2
Phenotype: Emotional lability (HP:0000712)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)
Gene: PANK2
Phenotype: Dementia (HP:0000726)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)
Gene: PANK2
Phenotype: Psychosis (HP:0000709)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)
Gene: PANK2
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PANK2
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PANK2
Phenotype: Young adult onset (HP:0011462)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Myopathy (HP:0003198)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Mask-like facies (HP:0000298)
Associated disease: NBIA1, classic form; PKAN, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; Classic pantothenate kinase-associated neurodegeneration (ORPHA:216866)
Gene: PANK2
Phenotype: Facial grimacing (HP:0000273)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PANK2
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: NBIA1, classic form; PKAN, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; Classic pantothenate kinase-associated neurodegeneration (ORPHA:216866)
Gene: PANK2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PANK2
Phenotype: Dysphonia (HP:0001618)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Inertia (HP:0030216)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)
Gene: PANK2
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)
Gene: PANK2
Phenotype: Retinopathy (HP:0000488)
Associated disease: Atypical pantothenate kinase-associated neurodegeneration; PKAN, atypical form; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form (ORPHA:216873)
Gene: PANK2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PANK2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: NBIA1, classic form; PKAN, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; Classic pantothenate kinase-associated neurodegeneration (ORPHA:216866)
Gene: PANK2
Phenotype: Weight loss (HP:0001824)
Associated disease: NBIA1, classic form; PKAN, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; Classic pantothenate kinase-associated neurodegeneration (ORPHA:216866)
Gene: PANK2
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: NBIA1, classic form; PKAN, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; Classic pantothenate kinase-associated neurodegeneration (ORPHA:216866)
Gene: PANK2
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PANK2
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Gene: PANK2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PANK2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: NBIA1, classic form; PKAN, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; Classic pantothenate kinase-associated neurodegeneration (ORPHA:216866)
Gene: PANK2
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TRPM3
Phenotype: Tapered finger (HP:0001182)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Persistent pupillary membrane (HP:0009917)
Associated disease: CATARACT 50 WITH OR WITHOUT GLAUCOMA (OMIM:620253)
Gene: TRPM3
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Micropenis (HP:0000054)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CATARACT 50 WITH OR WITHOUT GLAUCOMA (OMIM:620253)
Gene: TRPM3
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Wide mouth (HP:0000154)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Midface retrusion (HP:0011800)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Middle age onset (HP:0003596)
Associated disease: CATARACT 50 WITH OR WITHOUT GLAUCOMA (OMIM:620253)
Gene: TRPM3
Phenotype: Congenital onset (HP:0003577)
Associated disease: CATARACT 50 WITH OR WITHOUT GLAUCOMA (OMIM:620253)
Gene: TRPM3
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Cervical spinal canal stenosis (HP:0008445)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Short thumb (HP:0009778)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Athetosis (HP:0002305)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CATARACT 50 WITH OR WITHOUT GLAUCOMA (OMIM:620253)
Gene: TRPM3
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Broad hallux (HP:0010055)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Broad thumb (HP:0011304)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Inability to walk by childhood/adolescence (HP:0006915)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Childhood onset (HP:0011463)
Associated disease: CATARACT 50 WITH OR WITHOUT GLAUCOMA (OMIM:620253)
Gene: TRPM3
Phenotype: Young adult onset (HP:0011462)
Associated disease: CATARACT 50 WITH OR WITHOUT GLAUCOMA (OMIM:620253)
Gene: TRPM3
Phenotype: Long nose (HP:0003189)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Preauricular pit (HP:0004467)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Periventricular white matter hyperintensities (HP:0030891)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Facial capillary hemangioma (HP:0000996)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: Turricephaly (HP:0000262)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)
Gene: TRPM3
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES (OMIM:620224)