TaoMedAI/RareMedData huggingface dataset:
Gene: CLCN3
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Hypotelorism (HP:0000601)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Synophrys (HP:0000664)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN3
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN3
Phenotype: Hyperactivity (HP:0000752)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Anxiety (HP:0000739)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Restlessness (HP:0000711)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN3
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN3
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Abnormal dentate nucleus morphology (HP:0100321)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN3
Phenotype: Abnormal dentate nucleus morphology (HP:0100321)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Anisometropia (HP:0012803)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Full cheeks (HP:0000293)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Long face (HP:0000276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Large fontanelles (HP:0000239)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN3
Phenotype: Brachycephaly (HP:0000248)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN3
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Hypoplastic hippocampus (HP:0025517)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN3
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Long philtrum (HP:0000343)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Tonic seizure (HP:0032792)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Tonic seizure (HP:0032792)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN3
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Short philtrum (HP:0000322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Macrotia (HP:0000400)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Bulbous nose (HP:0000414)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Esotropia (HP:0000565)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Hypermetropia (HP:0000540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Dilation of Virchow-Robin spaces (HP:0012520)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES (OMIM:619512)
Gene: CLCN3
Phenotype: Dilation of Virchow-Robin spaces (HP:0012520)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES (OMIM:619517)
Gene: CLCN4
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Seizure (HP:0001250)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Seizure (HP:0001250)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Hypotonia (HP:0001252)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Dystonia (HP:0001332)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Absent speech (HP:0001344)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Myoclonus (HP:0001336)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Scoliosis (HP:0002650)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Scoliosis (HP:0002650)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Floppy infant (HP:0008947)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Midface retrusion (HP:0011800)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Midface retrusion (HP:0011800)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Chorea (HP:0002072)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Infantile onset (HP:0003593)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Unsteady gait (HP:0002317)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Hyperactivity (HP:0000752)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Anxiety (HP:0000739)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Anxiety (HP:0000739)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Depression (HP:0000716)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Depression (HP:0000716)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Autistic behavior (HP:0000729)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Autistic behavior (HP:0000729)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Atypical behavior (HP:0000708)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Atypical behavior (HP:0000708)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Long face (HP:0000276)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Long face (HP:0000276)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Microcephaly (HP:0000252)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Microcephaly (HP:0000252)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Pointed chin (HP:0000307)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: EEG with focal spikes (HP:0011193)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Strabismus (HP:0000486)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Strabismus (HP:0000486)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Infantile spasms (HP:0012469)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Gene: CLCN4
Phenotype: Delayed myelination (HP:0012448)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN4
Phenotype: Pes planus (HP:0001763)
Associated disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Gene: CLCN5
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN5
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN5
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN5
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS (OMIM:308990)
Gene: CLCN5
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Gene: CLCN5
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE (OMIM:310468)
Gene: CLCN5
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS (OMIM:308990)
Gene: CLCN5
Phenotype: Glomerular sclerosis (HP:0000096)
Associated disease: NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE (OMIM:310468)
Gene: CLCN5
Phenotype: Renal tubular atrophy (HP:0000092)
Associated disease: NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE (OMIM:310468)
Gene: CLCN5
Phenotype: Renal tubular atrophy (HP:0000092)
Associated disease: PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS (OMIM:308990)
Gene: CLCN5
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN5
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE (OMIM:300554)
Gene: CLCN5
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: DENT DISEASE 1 (OMIM:300009)
Gene: CLCN5
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN5
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CLCN5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CLCN5
Phenotype: Bone pain (HP:0002653)
Associated disease: DENT DISEASE 1 (OMIM:300009)