TaoMedAI/RareMedData huggingface dataset:
Gene: NUS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa (OMIM:617082)
Gene: NUS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES (OMIM:617831)
Gene: NUS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Spasticity (HP:0001257)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa (OMIM:617082)
Gene: NUS1
Phenotype: Tremor (HP:0001337)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Tremor (HP:0001337)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES (OMIM:617831)
Gene: NUS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES (OMIM:617831)
Gene: NUS1
Phenotype: Myoclonus (HP:0001336)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa (OMIM:617082)
Gene: NUS1
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa (OMIM:617082)
Gene: NUS1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES (OMIM:617831)
Gene: NUS1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa (OMIM:617082)
Gene: NUS1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES (OMIM:617831)
Gene: NUS1
Phenotype: Rigidity (HP:0002063)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES (OMIM:617831)
Gene: NUS1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa (OMIM:617082)
Gene: NUS1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES (OMIM:617831)
Gene: NUS1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa (OMIM:617082)
Gene: NUS1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa (OMIM:617082)
Gene: NUS1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa (OMIM:617082)
Gene: NUS1
Phenotype: Impulsivity (HP:0100710)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES (OMIM:617831)
Gene: NUS1
Phenotype: Pseudobulbar paralysis (HP:0007024)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa (OMIM:617082)
Gene: NUS1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES (OMIM:617831)
Gene: NUS1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES (OMIM:617831)
Gene: NUS1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: EEG with multifocal slow activity (HP:0010844)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Hypodontia (HP:0000668)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Short stature (HP:0004322)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES (OMIM:617831)
Gene: NUS1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Autism (HP:0000717)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES (OMIM:617831)
Gene: NUS1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Childhood onset (HP:0011463)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES (OMIM:617831)
Gene: NUS1
Phenotype: Abnormality of coordination (HP:0011443)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa (OMIM:617082)
Gene: NUS1
Phenotype: Appendicular spasticity (HP:0034353)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa (OMIM:617082)
Gene: NUS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa (OMIM:617082)
Gene: NUS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa (OMIM:617082)
Gene: NUS1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa (OMIM:617082)
Gene: NUS1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa (OMIM:617082)
Gene: NUS1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa (OMIM:617082)
Gene: NUS1
Phenotype: High forehead (HP:0000348)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES (OMIM:617831)
Gene: NUS1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Ptosis (HP:0000508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa (OMIM:617082)
Gene: COX20
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 (OMIM:619054)
Gene: COX20
Phenotype: Limb dystonia (HP:0002451)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 (OMIM:619054)
Gene: COX20
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 (OMIM:619054)
Gene: COX20
Phenotype: Ataxia (HP:0001251)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 (OMIM:619054)
Gene: COX20
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 (OMIM:619054)
Gene: COX20
Phenotype: Dysarthria (HP:0001260)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 (OMIM:619054)
Gene: COX20
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 (OMIM:619054)
Gene: COX20
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 (OMIM:619054)
Gene: COX20
Phenotype: Babinski sign (HP:0003487)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 (OMIM:619054)
Gene: COX20
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 (OMIM:619054)
Gene: COX20
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 (OMIM:619054)
Gene: COX20
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 (OMIM:619054)
Gene: COX20
Phenotype: Frequent falls (HP:0002359)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 (OMIM:619054)
Gene: COX20
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 (OMIM:619054)
Gene: COX20
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 (OMIM:619054)
Gene: COX20
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 (OMIM:619054)
Gene: COX20
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 (OMIM:619054)
Gene: COX20
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 (OMIM:619054)
Gene: COX20
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 (OMIM:619054)
Gene: COX20
Phenotype: Torticollis (HP:0000473)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 (OMIM:619054)
Gene: SLC26A8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPERMATOGENIC FAILURE 3 (OMIM:606766)
Gene: SLC26A8
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 3 (OMIM:606766)
Gene: SLC26A8
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 3 (OMIM:606766)
Gene: SLC26A8
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 3 (OMIM:606766)
Gene: RAB39B
Phenotype: Poor speech (HP:0002465)
Associated disease: WAISMAN SYNDROME (OMIM:311510)
Gene: RAB39B
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: WAISMAN SYNDROME (OMIM:311510)
Gene: RAB39B
Phenotype: Seizure (HP:0001250)
Associated disease: Waisman syndrome; Laxova-Opitz syndrome; Early-onset parkinsonism-intellectual disability syndrome (ORPHA:2379)
Gene: RAB39B
Phenotype: Seizure (HP:0001250)
Associated disease: WAISMAN SYNDROME (OMIM:311510)
Gene: RAB39B
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, X-LINKED 72 (OMIM:300271)
Gene: RAB39B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Waisman syndrome; Laxova-Opitz syndrome; Early-onset parkinsonism-intellectual disability syndrome (ORPHA:2379)
Gene: RAB39B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED 72 (OMIM:300271)
Gene: RAB39B
Phenotype: Dysarthria (HP:0001260)
Associated disease: WAISMAN SYNDROME (OMIM:311510)
Gene: RAB39B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: WAISMAN SYNDROME (OMIM:311510)
Gene: RAB39B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, X-LINKED 72 (OMIM:300271)
Gene: RAB39B
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: WAISMAN SYNDROME (OMIM:311510)
Gene: RAB39B
Phenotype: Megalencephaly (HP:0001355)
Associated disease: WAISMAN SYNDROME (OMIM:311510)
Gene: RAB39B
Phenotype: Parkinsonism (HP:0001300)
Associated disease: WAISMAN SYNDROME (OMIM:311510)
Gene: RAB39B
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: WAISMAN SYNDROME (OMIM:311510)
Gene: RAB39B
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENTAL RETARDATION, X-LINKED 72 (OMIM:300271)
Gene: RAB39B
Phenotype: Frontal bossing (HP:0002007)
Associated disease: WAISMAN SYNDROME (OMIM:311510)
Gene: RAB39B
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Waisman syndrome; Laxova-Opitz syndrome; Early-onset parkinsonism-intellectual disability syndrome (ORPHA:2379)
Gene: RAB39B
Phenotype: Bradykinesia (HP:0002067)
Associated disease: WAISMAN SYNDROME (OMIM:311510)
Gene: RAB39B
Phenotype: Rigidity (HP:0002063)
Associated disease: WAISMAN SYNDROME (OMIM:311510)
Gene: RAB39B
Phenotype: Rigidity (HP:0002063)
Associated disease: Waisman syndrome; Laxova-Opitz syndrome; Early-onset parkinsonism-intellectual disability syndrome (ORPHA:2379)
Gene: RAB39B
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Waisman syndrome; Laxova-Opitz syndrome; Early-onset parkinsonism-intellectual disability syndrome (ORPHA:2379)
Gene: RAB39B
Phenotype: Postural instability (HP:0002172)
Associated disease: WAISMAN SYNDROME (OMIM:311510)
Gene: RAB39B
Phenotype: Middle age onset (HP:0003596)
Associated disease: WAISMAN SYNDROME (OMIM:311510)
Gene: RAB39B
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: Waisman syndrome; Laxova-Opitz syndrome; Early-onset parkinsonism-intellectual disability syndrome (ORPHA:2379)
Gene: RAB39B
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: WAISMAN SYNDROME (OMIM:311510)
Gene: RAB39B
Phenotype: Shuffling gait (HP:0002362)
Associated disease: WAISMAN SYNDROME (OMIM:311510)
Gene: RAB39B
Phenotype: Resting tremor (HP:0002322)
Associated disease: WAISMAN SYNDROME (OMIM:311510)
Gene: RAB39B
Phenotype: Dyskinesia (HP:0100660)
Associated disease: WAISMAN SYNDROME (OMIM:311510)
Gene: RAB39B
Phenotype: Short stature (HP:0004322)
Associated disease: MENTAL RETARDATION, X-LINKED 72 (OMIM:300271)
Gene: RAB39B
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MENTAL RETARDATION, X-LINKED 72 (OMIM:300271)
Gene: RAB39B
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Waisman syndrome; Laxova-Opitz syndrome; Early-onset parkinsonism-intellectual disability syndrome (ORPHA:2379)
Gene: RAB39B
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: MENTAL RETARDATION, X-LINKED 72 (OMIM:300271)
Gene: RAB39B
Phenotype: Dementia (HP:0000726)
Associated disease: WAISMAN SYNDROME (OMIM:311510)
Gene: RAB39B
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, X-LINKED 72 (OMIM:300271)
Gene: RAB39B
Phenotype: Young adult onset (HP:0011462)
Associated disease: WAISMAN SYNDROME (OMIM:311510)
Gene: RAB39B
Phenotype: Lewy bodies (HP:0100315)
Associated disease: WAISMAN SYNDROME (OMIM:311510)
Gene: RAB39B
Phenotype: Macrocephaly (HP:0000256)
Associated disease: WAISMAN SYNDROME (OMIM:311510)
Gene: RAB39B
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Waisman syndrome; Laxova-Opitz syndrome; Early-onset parkinsonism-intellectual disability syndrome (ORPHA:2379)
Gene: RAB39B
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MENTAL RETARDATION, X-LINKED 72 (OMIM:300271)
Gene: RAB39B
Phenotype: Long face (HP:0000276)
Associated disease: MENTAL RETARDATION, X-LINKED 72 (OMIM:300271)
Gene: RAB39B
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: MENTAL RETARDATION, X-LINKED 72 (OMIM:300271)
Gene: RAB39B
Phenotype: Strabismus (HP:0000486)
Associated disease: Waisman syndrome; Laxova-Opitz syndrome; Early-onset parkinsonism-intellectual disability syndrome (ORPHA:2379)
Gene: TSEN15
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026)
Gene: TSEN15
Phenotype: Motor delay (HP:0001270)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Seizure (HP:0001250)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026)
Gene: TSEN15
Phenotype: Seizure (HP:0001250)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Hypotonia (HP:0001252)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026)
Gene: TSEN15
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026)
Gene: TSEN15
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026)
Gene: TSEN15
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026)
Gene: TSEN15
Phenotype: Spasticity (HP:0001257)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Inability to walk (HP:0002540)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026)
Gene: TSEN15
Phenotype: Abnormal cortical gyration (HP:0002536)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026)
Gene: TSEN15
Phenotype: Impaired oropharyngeal swallow response (HP:0031162)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026)
Gene: TSEN15
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026)
Gene: TSEN15
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN15
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026)