TaoMedAI/RareMedData huggingface dataset:
Gene: HHAT
Phenotype: Microcephaly (HP:0000252)
Associated disease: Chondrodysplasia-disorder of sex development syndrome; Chondrodysplasia-difference of sex development syndrome; Nivelon-Nivelon-Mabille syndrome; Chondrodysplasia-pseudohermaphroditism syndrome (ORPHA:1422)
Gene: HHAT
Phenotype: Microcephaly (HP:0000252)
Associated disease: NIVELON-NIVELON-MABILLE SYNDROME (OMIM:600092)
Gene: HHAT
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Chondrodysplasia-disorder of sex development syndrome; Chondrodysplasia-difference of sex development syndrome; Nivelon-Nivelon-Mabille syndrome; Chondrodysplasia-pseudohermaphroditism syndrome (ORPHA:1422)
Gene: HHAT
Phenotype: Distal clavicular thinning (HP:0025681)
Associated disease: NIVELON-NIVELON-MABILLE SYNDROME (OMIM:600092)
Gene: HHAT
Phenotype: Micromelia (HP:0002983)
Associated disease: NIVELON-NIVELON-MABILLE SYNDROME (OMIM:600092)
Gene: HHAT
Phenotype: Micromelia (HP:0002983)
Associated disease: Chondrodysplasia-disorder of sex development syndrome; Chondrodysplasia-difference of sex development syndrome; Nivelon-Nivelon-Mabille syndrome; Chondrodysplasia-pseudohermaphroditism syndrome (ORPHA:1422)
Gene: HHAT
Phenotype: Macrotia (HP:0000400)
Associated disease: Chondrodysplasia-disorder of sex development syndrome; Chondrodysplasia-difference of sex development syndrome; Nivelon-Nivelon-Mabille syndrome; Chondrodysplasia-pseudohermaphroditism syndrome (ORPHA:1422)
Gene: HHAT
Phenotype: Strabismus (HP:0000486)
Associated disease: Chondrodysplasia-disorder of sex development syndrome; Chondrodysplasia-difference of sex development syndrome; Nivelon-Nivelon-Mabille syndrome; Chondrodysplasia-pseudohermaphroditism syndrome (ORPHA:1422)
Gene: HHAT
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Chondrodysplasia-disorder of sex development syndrome; Chondrodysplasia-difference of sex development syndrome; Nivelon-Nivelon-Mabille syndrome; Chondrodysplasia-pseudohermaphroditism syndrome (ORPHA:1422)
Gene: HHAT
Phenotype: Telecanthus (HP:0000506)
Associated disease: Chondrodysplasia-disorder of sex development syndrome; Chondrodysplasia-difference of sex development syndrome; Nivelon-Nivelon-Mabille syndrome; Chondrodysplasia-pseudohermaphroditism syndrome (ORPHA:1422)
Gene: HHAT
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: NIVELON-NIVELON-MABILLE SYNDROME (OMIM:600092)
Gene: HHAT
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Chondrodysplasia-disorder of sex development syndrome; Chondrodysplasia-difference of sex development syndrome; Nivelon-Nivelon-Mabille syndrome; Chondrodysplasia-pseudohermaphroditism syndrome (ORPHA:1422)
Gene: HHAT
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: NIVELON-NIVELON-MABILLE SYNDROME (OMIM:600092)
Gene: HHAT
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: Chondrodysplasia-disorder of sex development syndrome; Chondrodysplasia-difference of sex development syndrome; Nivelon-Nivelon-Mabille syndrome; Chondrodysplasia-pseudohermaphroditism syndrome (ORPHA:1422)
Gene: VPS35
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Dystonia (HP:0001332)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Tremor (HP:0001337)
Associated disease: PARKINSON DISEASE 17 (OMIM:614203)
Gene: VPS35
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARKINSON DISEASE 17 (OMIM:614203)
Gene: VPS35
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PARKINSON DISEASE 17 (OMIM:614203)
Gene: VPS35
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Dysphagia (HP:0002015)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PARKINSON DISEASE 17 (OMIM:614203)
Gene: VPS35
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSON DISEASE 17 (OMIM:614203)
Gene: VPS35
Phenotype: Rigidity (HP:0002063)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Gliosis (HP:0002171)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Postural instability (HP:0002172)
Associated disease: PARKINSON DISEASE 17 (OMIM:614203)
Gene: VPS35
Phenotype: Postural instability (HP:0002172)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Adult onset (HP:0003581)
Associated disease: PARKINSON DISEASE 17 (OMIM:614203)
Gene: VPS35
Phenotype: Impulsivity (HP:0100710)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Visual hallucination (HP:0002367)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Shuffling gait (HP:0002362)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Frequent falls (HP:0002359)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Resting tremor (HP:0002322)
Associated disease: PARKINSON DISEASE 17 (OMIM:614203)
Gene: VPS35
Phenotype: Resting tremor (HP:0002322)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Dyskinesia (HP:0100660)
Associated disease: PARKINSON DISEASE 17 (OMIM:614203)
Gene: VPS35
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Akinesia (HP:0002304)
Associated disease: PARKINSON DISEASE 17 (OMIM:614203)
Gene: VPS35
Phenotype: Akinesia (HP:0002304)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Orthostatic hypotension due to autonomic dysfunction (HP:0004926)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Diplopia (HP:0000651)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Low frustration tolerance (HP:0000744)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Apathy (HP:0000741)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Depression (HP:0000716)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Agitation (HP:0000713)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Dementia (HP:0000726)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Hyposmia (HP:0004409)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Lewy bodies (HP:0100315)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Monotonic speech (HP:0031435)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Hypomimic face (HP:0000338)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Spastic/hyperactive bladder (HP:0005340)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Chronic constipation (HP:0012450)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: VPS35
Phenotype: Weight loss (HP:0001824)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: NAXD
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Encephalopathy (HP:0001298)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Lethargy (HP:0001254)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Seizure (HP:0001250)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Ataxia (HP:0001251)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Death in childhood (HP:0003819)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Dystonia (HP:0001332)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Myoclonus (HP:0001336)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Diarrhea (HP:0002014)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Vomiting (HP:0002013)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Gait ataxia (HP:0002066)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Chorea (HP:0002072)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Cerebral edema (HP:0002181)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Gliosis (HP:0002171)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Infantile onset (HP:0003593)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Developmental regression (HP:0002376)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Loss of speech (HP:0002371)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Erythema (HP:0010783)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Drooling (HP:0002307)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Recurrent fever (HP:0001954)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Irritability (HP:0000737)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Atypical behavior (HP:0000708)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Childhood onset (HP:0011463)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Skin rash (HP:0000988)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Tachycardia (HP:0001649)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Infantile spasms (HP:0012469)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Cataract (HP:0000518)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NAXD
Phenotype: Pancytopenia (HP:0001876)
Associated disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Gene: NUP133
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP133
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: GALLOWAY-MOWAT SYNDROME 8 (OMIM:618349)
Gene: NUP133
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP133
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHROTIC SYNDROME, TYPE 18 (OMIM:618177)
Gene: NUP133
Phenotype: Aqueductal stenosis (HP:0002410)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP133
Phenotype: Hypertonia (HP:0001276)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP133
Phenotype: Peritonitis (HP:0002586)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP133
Phenotype: Seizure (HP:0001250)
Associated disease: GALLOWAY-MOWAT SYNDROME 8 (OMIM:618349)
Gene: NUP133
Phenotype: Seizure (HP:0001250)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP133
Phenotype: Hypotonia (HP:0001252)
Associated disease: GALLOWAY-MOWAT SYNDROME 8 (OMIM:618349)
Gene: NUP133
Phenotype: Hypotonia (HP:0001252)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP133
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GALLOWAY-MOWAT SYNDROME 8 (OMIM:618349)
Gene: NUP133
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP133
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP133
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: GALLOWAY-MOWAT SYNDROME 8 (OMIM:618349)
Gene: NUP133
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP133
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: NEPHROTIC SYNDROME, TYPE 18 (OMIM:618177)
Gene: NUP133
Phenotype: Proteinuria (HP:0000093)
Associated disease: GALLOWAY-MOWAT SYNDROME 8 (OMIM:618349)
Gene: NUP133
Phenotype: Proteinuria (HP:0000093)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP133
Phenotype: Proteinuria (HP:0000093)
Associated disease: NEPHROTIC SYNDROME, TYPE 18 (OMIM:618177)
Gene: NUP133
Phenotype: Proteinuria (HP:0000093)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP133
Phenotype: Renal tubular atrophy (HP:0000092)
Associated disease: GALLOWAY-MOWAT SYNDROME 8 (OMIM:618349)
Gene: NUP133
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GALLOWAY-MOWAT SYNDROME 8 (OMIM:618349)
Gene: NUP133
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHROTIC SYNDROME, TYPE 18 (OMIM:618177)
Gene: NUP133
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP133
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: GALLOWAY-MOWAT SYNDROME 8 (OMIM:618349)
Gene: NUP133
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP133
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: GALLOWAY-MOWAT SYNDROME 8 (OMIM:618349)
Gene: NUP133
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: GALLOWAY-MOWAT SYNDROME 8 (OMIM:618349)
Gene: NUP133
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP133
Phenotype: Nephropathy (HP:0000112)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP133
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)