TaoMedAI/RareMedData huggingface dataset:
Gene: PLP1
Phenotype: Urinary urgency (HP:0000012)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Tremor (HP:0001337)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPASTIC PARAPLEGIA 2, X-LINKED (OMIM:312920)
Gene: PLP1
Phenotype: Pachygyria (HP:0001302)
Associated disease: Connatal PMD; Severe PMD; Pelizaeus-Merzbacher disease type II; Pelizaeus-Merzbacher disease, connatal form (ORPHA:280210)
Gene: PLP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Connatal PMD; Severe PMD; Pelizaeus-Merzbacher disease type II; Pelizaeus-Merzbacher disease, connatal form (ORPHA:280210)
Gene: PLP1
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Null syndrome; Pelizaeus-Merzbacher disease, null syndrome; PLP1 null syndrome (ORPHA:280234)
Gene: PLP1
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: SPASTIC PARAPLEGIA 2, X-LINKED (OMIM:312920)
Gene: PLP1
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: Spastic gait type 2; SPG2; Spastic paraparesis type 2; Spastic paraplegia type 2; X-linked spastic paraplegia type 2 (ORPHA:99015)
Gene: PLP1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Classic PMD; Pelizaeus-Merzbacher disease, classic form (ORPHA:280219)
Gene: PLP1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: SPASTIC PARAPLEGIA 2, X-LINKED (OMIM:312920)
Gene: PLP1
Phenotype: Hand apraxia (HP:0032588)
Associated disease: Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Gene: PLP1
Phenotype: Dysphagia (HP:0002015)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Confluent hyperintensity of cerebral white matter on MRI (HP:0040330)
Associated disease: Connatal PMD; Severe PMD; Pelizaeus-Merzbacher disease type II; Pelizaeus-Merzbacher disease, connatal form (ORPHA:280210)
Gene: PLP1
Phenotype: Confluent hyperintensity of cerebral white matter on MRI (HP:0040330)
Associated disease: Classic PMD; Pelizaeus-Merzbacher disease, classic form (ORPHA:280219)
Gene: PLP1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Gene: PLP1
Phenotype: Intention tremor (HP:0002080)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Classic PMD; Pelizaeus-Merzbacher disease, classic form (ORPHA:280219)
Gene: PLP1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Spastic gait (HP:0002064)
Associated disease: Spastic gait type 2; SPG2; Spastic paraparesis type 2; Spastic paraplegia type 2; X-linked spastic paraplegia type 2 (ORPHA:99015)
Gene: PLP1
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 2, X-LINKED (OMIM:312920)
Gene: PLP1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Connatal PMD; Severe PMD; Pelizaeus-Merzbacher disease type II; Pelizaeus-Merzbacher disease, connatal form (ORPHA:280210)
Gene: PLP1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Gene: PLP1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 2, X-LINKED (OMIM:312920)
Gene: PLP1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Spastic gait type 2; SPG2; Spastic paraparesis type 2; Spastic paraplegia type 2; X-linked spastic paraplegia type 2 (ORPHA:99015)
Gene: PLP1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Classic PMD; Pelizaeus-Merzbacher disease, classic form (ORPHA:280219)
Gene: PLP1
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: Connatal PMD; Severe PMD; Pelizaeus-Merzbacher disease type II; Pelizaeus-Merzbacher disease, connatal form (ORPHA:280210)
Gene: PLP1
Phenotype: Babinski sign (HP:0003487)
Associated disease: Spastic gait type 2; SPG2; Spastic paraparesis type 2; Spastic paraplegia type 2; X-linked spastic paraplegia type 2 (ORPHA:99015)
Gene: PLP1
Phenotype: Babinski sign (HP:0003487)
Associated disease: Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Gene: PLP1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 2, X-LINKED (OMIM:312920)
Gene: PLP1
Phenotype: Broad-based gait (HP:0002136)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: Transitional PMD; Pelizaeus-Merzbacher disease, transitional form (ORPHA:280224)
Gene: PLP1
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: Null syndrome; Pelizaeus-Merzbacher disease, null syndrome; PLP1 null syndrome (ORPHA:280234)
Gene: PLP1
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Gene: PLP1
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Gene: PLP1
Phenotype: Scanning speech (HP:0002168)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Classic PMD; Pelizaeus-Merzbacher disease, classic form (ORPHA:280219)
Gene: PLP1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Gene: PLP1
Phenotype: Gliosis (HP:0002171)
Associated disease: Connatal PMD; Severe PMD; Pelizaeus-Merzbacher disease type II; Pelizaeus-Merzbacher disease, connatal form (ORPHA:280210)
Gene: PLP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPASTIC PARAPLEGIA 2, X-LINKED (OMIM:312920)
Gene: PLP1
Phenotype: Reduction of oligodendroglia (HP:0100709)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Congenital laryngeal stridor (HP:0004886)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Spastic gait type 2; SPG2; Spastic paraparesis type 2; Spastic paraplegia type 2; X-linked spastic paraplegia type 2 (ORPHA:99015)
Gene: PLP1
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: Spastic gait type 2; SPG2; Spastic paraparesis type 2; Spastic paraplegia type 2; X-linked spastic paraplegia type 2 (ORPHA:99015)
Gene: PLP1
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: Null syndrome; Pelizaeus-Merzbacher disease, null syndrome; PLP1 null syndrome (ORPHA:280234)
Gene: PLP1
Phenotype: Decreased vigilance (HP:0032044)
Associated disease: Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Gene: PLP1
Phenotype: Abnormal morphology of musculature of pharynx (HP:0430015)
Associated disease: Connatal PMD; Severe PMD; Pelizaeus-Merzbacher disease type II; Pelizaeus-Merzbacher disease, connatal form (ORPHA:280210)
Gene: PLP1
Phenotype: Psychomotor deterioration (HP:0002361)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Gene: PLP1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Transitional PMD; Pelizaeus-Merzbacher disease, transitional form (ORPHA:280224)
Gene: PLP1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Null syndrome; Pelizaeus-Merzbacher disease, null syndrome; PLP1 null syndrome (ORPHA:280234)
Gene: PLP1
Phenotype: Writer's cramp (HP:0002356)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Head tremor (HP:0002346)
Associated disease: Classic PMD; Pelizaeus-Merzbacher disease, classic form (ORPHA:280219)
Gene: PLP1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Gene: PLP1
Phenotype: Degeneration of the lateral corticospinal tracts (HP:0002314)
Associated disease: SPASTIC PARAPLEGIA 2, X-LINKED (OMIM:312920)
Gene: PLP1
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: Null syndrome; Pelizaeus-Merzbacher disease, null syndrome; PLP1 null syndrome (ORPHA:280234)
Gene: PLP1
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: Classic PMD; Pelizaeus-Merzbacher disease, classic form (ORPHA:280219)
Gene: PLP1
Phenotype: Athetosis (HP:0002305)
Associated disease: Classic PMD; Pelizaeus-Merzbacher disease, classic form (ORPHA:280219)
Gene: PLP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC PARAPLEGIA 2, X-LINKED (OMIM:312920)
Gene: PLP1
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: Classic PMD; Pelizaeus-Merzbacher disease, classic form (ORPHA:280219)
Gene: PLP1
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: Connatal PMD; Severe PMD; Pelizaeus-Merzbacher disease type II; Pelizaeus-Merzbacher disease, connatal form (ORPHA:280210)
Gene: PLP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Spastic gait type 2; SPG2; Spastic paraparesis type 2; Spastic paraplegia type 2; X-linked spastic paraplegia type 2 (ORPHA:99015)
Gene: PLP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPASTIC PARAPLEGIA 2, X-LINKED (OMIM:312920)
Gene: PLP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Connatal PMD; Severe PMD; Pelizaeus-Merzbacher disease type II; Pelizaeus-Merzbacher disease, connatal form (ORPHA:280210)
Gene: PLP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Transitional PMD; Pelizaeus-Merzbacher disease, transitional form (ORPHA:280224)
Gene: PLP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Classic PMD; Pelizaeus-Merzbacher disease, classic form (ORPHA:280219)
Gene: PLP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Null syndrome; Pelizaeus-Merzbacher disease, null syndrome; PLP1 null syndrome (ORPHA:280234)
Gene: PLP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Gene: PLP1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Spastic gait type 2; SPG2; Spastic paraparesis type 2; Spastic paraplegia type 2; X-linked spastic paraplegia type 2 (ORPHA:99015)
Gene: PLP1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Null syndrome; Pelizaeus-Merzbacher disease, null syndrome; PLP1 null syndrome (ORPHA:280234)
Gene: PLP1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SPASTIC PARAPLEGIA 2, X-LINKED (OMIM:312920)
Gene: PLP1
Phenotype: Moderate global developmental delay (HP:0011343)
Associated disease: Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Gene: PLP1
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Gene: PLP1
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Gene: PLP1
Phenotype: Short stature (HP:0004322)
Associated disease: Connatal PMD; Severe PMD; Pelizaeus-Merzbacher disease type II; Pelizaeus-Merzbacher disease, connatal form (ORPHA:280210)
Gene: PLP1
Phenotype: Short stature (HP:0004322)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Dystonic gait (HP:0031954)
Associated disease: Connatal PMD; Severe PMD; Pelizaeus-Merzbacher disease type II; Pelizaeus-Merzbacher disease, connatal form (ORPHA:280210)
Gene: PLP1
Phenotype: Dystonic gait (HP:0031954)
Associated disease: Classic PMD; Pelizaeus-Merzbacher disease, classic form (ORPHA:280219)
Gene: PLP1
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Connatal PMD; Severe PMD; Pelizaeus-Merzbacher disease type II; Pelizaeus-Merzbacher disease, connatal form (ORPHA:280210)
Gene: PLP1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: Classic PMD; Pelizaeus-Merzbacher disease, classic form (ORPHA:280219)
Gene: PLP1
Phenotype: Abnormal CNS myelination (HP:0011400)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: Spastic gait type 2; SPG2; Spastic paraparesis type 2; Spastic paraplegia type 2; X-linked spastic paraplegia type 2 (ORPHA:99015)
Gene: PLP1
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: Null syndrome; Pelizaeus-Merzbacher disease, null syndrome; PLP1 null syndrome (ORPHA:280234)
Gene: PLP1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Classic PMD; Pelizaeus-Merzbacher disease, classic form (ORPHA:280219)
Gene: PLP1
Phenotype: Apathy (HP:0000741)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Depression (HP:0000716)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA 2, X-LINKED (OMIM:312920)
Gene: PLP1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Null syndrome; Pelizaeus-Merzbacher disease, null syndrome; PLP1 null syndrome (ORPHA:280234)
Gene: PLP1
Phenotype: Anomic aphasia (HP:0030784)
Associated disease: Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Gene: PLP1
Phenotype: Abnormality of peripheral nerve conduction (HP:0003134)
Associated disease: Null syndrome; Pelizaeus-Merzbacher disease, null syndrome; PLP1 null syndrome (ORPHA:280234)
Gene: PLP1
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Gene: PLP1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SPASTIC PARAPLEGIA 2, X-LINKED (OMIM:312920)
Gene: PLP1
Phenotype: Sudanophilic leukodystrophy (HP:0003269)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Rotary nystagmus (HP:0001583)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Connatal PMD; Severe PMD; Pelizaeus-Merzbacher disease type II; Pelizaeus-Merzbacher disease, connatal form (ORPHA:280210)
Gene: PLP1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Connatal PMD; Severe PMD; Pelizaeus-Merzbacher disease type II; Pelizaeus-Merzbacher disease, connatal form (ORPHA:280210)
Gene: PLP1
Phenotype: Growth delay (HP:0001510)
Associated disease: Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Gene: PLP1
Phenotype: Laryngeal stridor (HP:0006511)
Associated disease: Connatal PMD; Severe PMD; Pelizaeus-Merzbacher disease type II; Pelizaeus-Merzbacher disease, connatal form (ORPHA:280210)
Gene: PLP1
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: Null syndrome; Pelizaeus-Merzbacher disease, null syndrome; PLP1 null syndrome (ORPHA:280234)
Gene: PLP1
Phenotype: Titubation (HP:0030187)
Associated disease: Connatal PMD; Severe PMD; Pelizaeus-Merzbacher disease type II; Pelizaeus-Merzbacher disease, connatal form (ORPHA:280210)
Gene: PLP1
Phenotype: Titubation (HP:0030187)
Associated disease: Classic PMD; Pelizaeus-Merzbacher disease, classic form (ORPHA:280219)
Gene: PLP1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Gene: PLP1
Phenotype: Spastic/hyperactive bladder (HP:0005340)
Associated disease: Spastic gait type 2; SPG2; Spastic paraparesis type 2; Spastic paraplegia type 2; X-linked spastic paraplegia type 2 (ORPHA:99015)
Gene: PLP1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Gene: PLP1
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Connatal PMD; Severe PMD; Pelizaeus-Merzbacher disease type II; Pelizaeus-Merzbacher disease, connatal form (ORPHA:280210)
Gene: PLP1
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA 2, X-LINKED (OMIM:312920)
Gene: PLP1
Phenotype: Vertical supranuclear gaze palsy (HP:0000511)
Associated disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Gene: PLP1
Phenotype: EEG with abnormally slow frequencies (HP:0011203)
Associated disease: Classic PMD; Pelizaeus-Merzbacher disease, classic form (ORPHA:280219)
Gene: PLS1
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 76 (OMIM:618787)
Gene: PLS1
Phenotype: Motor delay (HP:0001270)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 76 (OMIM:618787)
Gene: PLS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 76 (OMIM:618787)
Gene: PLS1
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 76 (OMIM:618787)
Gene: PLS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 76 (OMIM:618787)
Gene: PLS1
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 76 (OMIM:618787)
Gene: PLS3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLS3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLS3
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLS3
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLS3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLS3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLS3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLS3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLS3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLS3
Phenotype: Neonatal death (HP:0003811)
Associated disease: DIAPHRAGMATIC HERNIA 5, X-LINKED (OMIM:306950)
Gene: PLS3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLS3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLS3
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLS3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLS3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLS3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLS3
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLS3
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLS3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLS3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLS3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLS3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLS3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLS3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLS3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLS3
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLS3
Phenotype: Scoliosis (HP:0002650)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLS3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLS3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLS3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLS3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLS3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLS3
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLS3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLS3
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLS3
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLS3
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLS3
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: PLS3
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLS3
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: PLS3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLS3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLS3
Phenotype: Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)