TaoMedAI/RareMedData huggingface dataset:
Gene: FBXL7
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: FBXL7
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: FBXL7
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: FBXL7
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: FBXL7
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: FBXL7
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: FBXL7
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: FBXL7
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: FBXL7
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: FBXL7
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: FBXL7
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: FBXL7
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: FBXL7
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: FBXL7
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: FBXL7
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: FBXL7
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PMPCA
Phenotype: Saccadic smooth pursuit (HP:0001152)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Gene: PMPCA
Phenotype: Progressive psychomotor deterioration (HP:0007272)
Associated disease: Autosomal recessive spinocerebellar ataxia type 2; SCAR2; Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
Gene: PMPCA
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Gene: PMPCA
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Autosomal recessive spinocerebellar ataxia type 2; SCAR2; Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
Gene: PMPCA
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Gene: PMPCA
Phenotype: Hypotonia (HP:0001252)
Associated disease: Autosomal recessive spinocerebellar ataxia type 2; SCAR2; Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
Gene: PMPCA
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Gene: PMPCA
Phenotype: Ataxia (HP:0001251)
Associated disease: Autosomal recessive spinocerebellar ataxia type 2; SCAR2; Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
Gene: PMPCA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Gene: PMPCA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal recessive spinocerebellar ataxia type 2; SCAR2; Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
Gene: PMPCA
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Gene: PMPCA
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Gene: PMPCA
Phenotype: Dysarthria (HP:0001260)
Associated disease: Autosomal recessive spinocerebellar ataxia type 2; SCAR2; Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
Gene: PMPCA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Gene: PMPCA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Autosomal recessive spinocerebellar ataxia type 2; SCAR2; Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
Gene: PMPCA
Phenotype: Spasticity (HP:0001257)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Gene: PMPCA
Phenotype: Spasticity (HP:0001257)
Associated disease: Autosomal recessive spinocerebellar ataxia type 2; SCAR2; Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
Gene: PMPCA
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: Autosomal recessive spinocerebellar ataxia type 2; SCAR2; Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
Gene: PMPCA
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: Autosomal recessive spinocerebellar ataxia type 2; SCAR2; Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
Gene: PMPCA
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Gene: PMPCA
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Autosomal recessive spinocerebellar ataxia type 2; SCAR2; Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
Gene: PMPCA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Gene: PMPCA
Phenotype: Tremor (HP:0001337)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Gene: PMPCA
Phenotype: Tremor (HP:0001337)
Associated disease: Autosomal recessive spinocerebellar ataxia type 2; SCAR2; Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
Gene: PMPCA
Phenotype: Dysmetria (HP:0001310)
Associated disease: Autosomal recessive spinocerebellar ataxia type 2; SCAR2; Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
Gene: PMPCA
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Gene: PMPCA
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Gene: PMPCA
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Autosomal recessive spinocerebellar ataxia type 2; SCAR2; Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
Gene: PMPCA
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Autosomal recessive spinocerebellar ataxia type 2; SCAR2; Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
Gene: PMPCA
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Gene: PMPCA
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Gene: PMPCA
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Gene: PMPCA
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: Autosomal recessive spinocerebellar ataxia type 2; SCAR2; Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
Gene: PMPCA
Phenotype: Gliosis (HP:0002171)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Gene: PMPCA
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Gene: PMPCA
Phenotype: Poor motor coordination (HP:0002275)
Associated disease: Autosomal recessive spinocerebellar ataxia type 2; SCAR2; Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
Gene: PMPCA
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: Autosomal recessive spinocerebellar ataxia type 2; SCAR2; Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
Gene: PMPCA
Phenotype: Nonprogressive (HP:0003680)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Gene: PMPCA
Phenotype: Unsteady gait (HP:0002317)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Gene: PMPCA
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Autosomal recessive spinocerebellar ataxia type 2; SCAR2; Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
Gene: PMPCA
Phenotype: Impaired visuospatial constructive cognition (HP:0010794)
Associated disease: Autosomal recessive spinocerebellar ataxia type 2; SCAR2; Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
Gene: PMPCA
Phenotype: Incoordination (HP:0002311)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Gene: PMPCA
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Gene: PMPCA
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: Autosomal recessive spinocerebellar ataxia type 2; SCAR2; Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
Gene: PMPCA
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Gene: PMPCA
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: Autosomal recessive spinocerebellar ataxia type 2; SCAR2; Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
Gene: PMPCA
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Gene: PMPCA
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Autosomal recessive spinocerebellar ataxia type 2; SCAR2; Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
Gene: PMPCA
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Autosomal recessive spinocerebellar ataxia type 2; SCAR2; Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
Gene: PMPCA
Phenotype: Short stature (HP:0004322)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Gene: PMPCA
Phenotype: Short stature (HP:0004322)
Associated disease: Autosomal recessive spinocerebellar ataxia type 2; SCAR2; Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
Gene: PMPCA
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: Autosomal recessive spinocerebellar ataxia type 2; SCAR2; Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
Gene: PMPCA
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Gene: PMPCA
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Gene: PMPCA
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Autosomal recessive spinocerebellar ataxia type 2; SCAR2; Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
Gene: PMPCA
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Autosomal recessive spinocerebellar ataxia type 2; SCAR2; Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
Gene: PMPCA
Phenotype: Pes planus (HP:0001763)
Associated disease: Autosomal recessive spinocerebellar ataxia type 2; SCAR2; Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
Gene: PMPCA
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2 (OMIM:213200)
Gene: ARL6IP1
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: Autosomal recessive spastic paraplegia type 61; SPG61 (ORPHA:401780)
Gene: ARL6IP1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Autosomal recessive spastic paraplegia type 61; SPG61 (ORPHA:401780)
Gene: ARL6IP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE (OMIM:615685)
Gene: ARL6IP1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE (OMIM:615685)
Gene: ARL6IP1
Phenotype: Spasticity (HP:0001257)
Associated disease: Autosomal recessive spastic paraplegia type 61; SPG61 (ORPHA:401780)
Gene: ARL6IP1
Phenotype: Spasticity (HP:0001257)
Associated disease: SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE (OMIM:615685)
Gene: ARL6IP1
Phenotype: Inability to walk (HP:0002540)
Associated disease: SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE (OMIM:615685)
Gene: ARL6IP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE (OMIM:615685)
Gene: ARL6IP1
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE (OMIM:615685)
Gene: ARL6IP1
Phenotype: Hyperactive patellar reflex (HP:0007083)
Associated disease: SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE (OMIM:615685)
Gene: ARL6IP1
Phenotype: Hyperactive patellar reflex (HP:0007083)
Associated disease: Autosomal recessive spastic paraplegia type 61; SPG61 (ORPHA:401780)
Gene: ARL6IP1
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE (OMIM:615685)
Gene: ARL6IP1
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: Autosomal recessive spastic paraplegia type 61; SPG61 (ORPHA:401780)
Gene: ARL6IP1
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE (OMIM:615685)
Gene: ARL6IP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE (OMIM:615685)
Gene: ARL6IP1
Phenotype: Abnormality of the Achilles tendon (HP:0005109)
Associated disease: Autosomal recessive spastic paraplegia type 61; SPG61 (ORPHA:401780)
Gene: ARL6IP1
Phenotype: Abnormality of the knee (HP:0002815)
Associated disease: Autosomal recessive spastic paraplegia type 61; SPG61 (ORPHA:401780)
Gene: ARL6IP1
Phenotype: Scissor gait (HP:0012407)
Associated disease: SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE (OMIM:615685)
Gene: ARL6IP1
Phenotype: Scissor gait (HP:0012407)
Associated disease: Autosomal recessive spastic paraplegia type 61; SPG61 (ORPHA:401780)
Gene: MLC1
Phenotype: Motor delay (HP:0001270)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (OMIM:604004)
Gene: MLC1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: MLC1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (OMIM:604004)
Gene: MLC1
Phenotype: Seizure (HP:0001250)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: MLC1
Phenotype: Seizure (HP:0001250)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (OMIM:604004)
Gene: MLC1
Phenotype: Ataxia (HP:0001251)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: MLC1
Phenotype: Ataxia (HP:0001251)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (OMIM:604004)
Gene: MLC1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: MLC1
Phenotype: Spasticity (HP:0001257)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: MLC1
Phenotype: Spasticity (HP:0001257)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (OMIM:604004)
Gene: MLC1
Phenotype: Diffuse swelling of cerebral white matter (HP:0007341)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: MLC1
Phenotype: Diffuse swelling of cerebral white matter (HP:0007341)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (OMIM:604004)
Gene: MLC1
Phenotype: Megalencephaly (HP:0001355)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (OMIM:604004)
Gene: MLC1
Phenotype: Dystonia (HP:0001332)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: MLC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (OMIM:604004)
Gene: MLC1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: MLC1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: MLC1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (OMIM:604004)
Gene: MLC1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: MLC1
Phenotype: Motor deterioration (HP:0002333)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: MLC1
Phenotype: Cerebral subcortical cyst (HP:6000461)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: MLC1
Phenotype: Clumsiness (HP:0002312)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: MLC1
Phenotype: Athetosis (HP:0002305)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: MLC1
Phenotype: Diffuse spongiform leukoencephalopathy (HP:0006943)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (OMIM:604004)
Gene: MLC1
Phenotype: Autism (HP:0000717)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: MLC1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: MLC1
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: MLC1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 (OMIM:604004)
Gene: MLC1
Phenotype: Postnatal macrocephaly (HP:0005490)
Associated disease: MLC; Megalencephalic leukodystrophy; Megalencephaly-cystic leukodystrophy syndrome; Megalencephalic leukoencephalopathy with subcortical cysts; Van der Knaap syndrome; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (ORPHA:2478)
Gene: SULF1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SULF1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SULF1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SULF1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SULF1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SULF1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SULF1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SULF1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SULF1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SULF1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)