TaoMedAI/RareMedData huggingface dataset:
Gene: TXNL4A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome; Burn-McKeown syndrome (ORPHA:1200)
Gene: TXNL4A
Phenotype: Choanal atresia (HP:0000453)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: Protruding ear (HP:0000411)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome; Burn-McKeown syndrome (ORPHA:1200)
Gene: TXNL4A
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: TXNL4A
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome; Burn-McKeown syndrome (ORPHA:1200)
Gene: TXNL4A
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome; Burn-McKeown syndrome (ORPHA:1200)
Gene: TXNL4A
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: BURN-MCKEOWN SYNDROME (OMIM:608572)
Gene: PNPLA6
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: LAURENCE-MOON SYNDROME (OMIM:245800)
Gene: PNPLA6
Phenotype: Brachydactyly (HP:0001156)
Associated disease: LMS; Laurence-Moon syndrome (ORPHA:2377)
Gene: PNPLA6
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: LMS; Laurence-Moon syndrome (ORPHA:2377)
Gene: PNPLA6
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PNPLA6
Phenotype: Chorioretinal dystrophy (HP:0001135)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Chorioretinal dystrophy (HP:0001135)
Associated disease: Ataxia-hypogonadism-choroidal dystrophy syndrome; Boucher-Neuhäuser syndrome (ORPHA:1180)
Gene: PNPLA6
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Spinocerebellar atrophy (HP:0007263)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Abnormal antitragus morphology (HP:0009896)
Associated disease: LMS; Laurence-Moon syndrome (ORPHA:2377)
Gene: PNPLA6
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Spastic paraplegia due to NTE mutation; SPG39; Autosomal recessive spastic paraplegia type 39; Spastic paraplegia due to neuropathy target esterase mutation (ORPHA:139480)
Gene: PNPLA6
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE (OMIM:612020)
Gene: PNPLA6
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE (OMIM:612020)
Gene: PNPLA6
Phenotype: Areflexia (HP:0001284)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Seizure (HP:0001250)
Associated disease: Oliver-McFarlane syndrome; Trichomegaly-retina pigmentary degeneration-dwarfism syndrome; Long eyelashes-intellectual disability syndrome (ORPHA:3363)
Gene: PNPLA6
Phenotype: Hypotonia (HP:0001252)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: PNPLA6
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Ataxia (HP:0001251)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Ataxia (HP:0001251)
Associated disease: LMS; Laurence-Moon syndrome (ORPHA:2377)
Gene: PNPLA6
Phenotype: Ataxia (HP:0001251)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Ataxia (HP:0001251)
Associated disease: Ataxia-hypogonadism-choroidal dystrophy syndrome; Boucher-Neuhäuser syndrome (ORPHA:1180)
Gene: PNPLA6
Phenotype: Ataxia (HP:0001251)
Associated disease: Oliver-McFarlane syndrome; Trichomegaly-retina pigmentary degeneration-dwarfism syndrome; Long eyelashes-intellectual disability syndrome (ORPHA:3363)
Gene: PNPLA6
Phenotype: Ataxia (HP:0001251)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: PNPLA6
Phenotype: Ataxia (HP:0001251)
Associated disease: SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE (OMIM:612020)
Gene: PNPLA6
Phenotype: Ataxia (HP:0001251)
Associated disease: LAURENCE-MOON SYNDROME (OMIM:245800)
Gene: PNPLA6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LMS; Laurence-Moon syndrome (ORPHA:2377)
Gene: PNPLA6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Oliver-McFarlane syndrome; Trichomegaly-retina pigmentary degeneration-dwarfism syndrome; Long eyelashes-intellectual disability syndrome (ORPHA:3363)
Gene: PNPLA6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LAURENCE-MOON SYNDROME (OMIM:245800)
Gene: PNPLA6
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Dysarthria (HP:0001260)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: Spastic paraplegia due to NTE mutation; SPG39; Autosomal recessive spastic paraplegia type 39; Spastic paraplegia due to neuropathy target esterase mutation (ORPHA:139480)
Gene: PNPLA6
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: LAURENCE-MOON SYNDROME (OMIM:245800)
Gene: PNPLA6
Phenotype: Spasticity (HP:0001257)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: PNPLA6
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: LMS; Laurence-Moon syndrome (ORPHA:2377)
Gene: PNPLA6
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: LMS; Laurence-Moon syndrome (ORPHA:2377)
Gene: PNPLA6
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: LMS; Laurence-Moon syndrome (ORPHA:2377)
Gene: PNPLA6
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Ataxia-hypogonadism-choroidal dystrophy syndrome; Boucher-Neuhäuser syndrome (ORPHA:1180)
Gene: PNPLA6
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: PNPLA6
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Small scrotum (HP:0000046)
Associated disease: LAURENCE-MOON SYNDROME (OMIM:245800)
Gene: PNPLA6
Phenotype: Micropenis (HP:0000054)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Micropenis (HP:0000054)
Associated disease: Oliver-McFarlane syndrome; Trichomegaly-retina pigmentary degeneration-dwarfism syndrome; Long eyelashes-intellectual disability syndrome (ORPHA:3363)
Gene: PNPLA6
Phenotype: Micropenis (HP:0000054)
Associated disease: LAURENCE-MOON SYNDROME (OMIM:245800)
Gene: PNPLA6
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Spastic paraplegia due to NTE mutation; SPG39; Autosomal recessive spastic paraplegia type 39; Spastic paraplegia due to neuropathy target esterase mutation (ORPHA:139480)
Gene: PNPLA6
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE (OMIM:612020)
Gene: PNPLA6
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: LMS; Laurence-Moon syndrome (ORPHA:2377)
Gene: PNPLA6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Oliver-McFarlane syndrome; Trichomegaly-retina pigmentary degeneration-dwarfism syndrome; Long eyelashes-intellectual disability syndrome (ORPHA:3363)
Gene: PNPLA6
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE (OMIM:612020)
Gene: PNPLA6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PNPLA6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LAURENCE-MOON SYNDROME (OMIM:245800)
Gene: PNPLA6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PNPLA6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: LMS; Laurence-Moon syndrome (ORPHA:2377)
Gene: PNPLA6
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Oliver-McFarlane syndrome; Trichomegaly-retina pigmentary degeneration-dwarfism syndrome; Long eyelashes-intellectual disability syndrome (ORPHA:3363)
Gene: PNPLA6
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Decreased fertility (HP:0000144)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: PNPLA6
Phenotype: Hypogonadism (HP:0000135)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Oliver-McFarlane syndrome; Trichomegaly-retina pigmentary degeneration-dwarfism syndrome; Long eyelashes-intellectual disability syndrome (ORPHA:3363)
Gene: PNPLA6
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: PNPLA6
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PNPLA6
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PNPLA6
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: LMS; Laurence-Moon syndrome (ORPHA:2377)
Gene: PNPLA6
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Oliver-McFarlane syndrome; Trichomegaly-retina pigmentary degeneration-dwarfism syndrome; Long eyelashes-intellectual disability syndrome (ORPHA:3363)
Gene: PNPLA6
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Oliver-McFarlane syndrome; Trichomegaly-retina pigmentary degeneration-dwarfism syndrome; Long eyelashes-intellectual disability syndrome (ORPHA:3363)
Gene: PNPLA6
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: LMS; Laurence-Moon syndrome (ORPHA:2377)
Gene: PNPLA6
Phenotype: Decreased patellar reflex (HP:0011808)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Intention tremor (HP:0002080)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Intention tremor (HP:0002080)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Spastic paraplegia due to NTE mutation; SPG39; Autosomal recessive spastic paraplegia type 39; Spastic paraplegia due to neuropathy target esterase mutation (ORPHA:139480)
Gene: PNPLA6
Phenotype: Gait ataxia (HP:0002066)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Gait ataxia (HP:0002066)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Spastic paraplegia due to NTE mutation; SPG39; Autosomal recessive spastic paraplegia type 39; Spastic paraplegia due to neuropathy target esterase mutation (ORPHA:139480)
Gene: PNPLA6
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Polydactyly (HP:0010442)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Polydactyly (HP:0010442)
Associated disease: LAURENCE-MOON SYNDROME (OMIM:245800)
Gene: PNPLA6
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Babinski sign (HP:0003487)
Associated disease: Spastic paraplegia due to NTE mutation; SPG39; Autosomal recessive spastic paraplegia type 39; Spastic paraplegia due to neuropathy target esterase mutation (ORPHA:139480)
Gene: PNPLA6
Phenotype: Babinski sign (HP:0003487)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE (OMIM:612020)
Gene: PNPLA6
Phenotype: Abnormal upper motor neuron morphology (HP:0002127)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Scanning speech (HP:0002168)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: PNPLA6
Phenotype: Hyperactive Achilles reflex (HP:0033206)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Reduced circulating prolactin concentration (HP:0008202)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE (OMIM:612020)
Gene: PNPLA6
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: Spastic paraplegia due to NTE mutation; SPG39; Autosomal recessive spastic paraplegia type 39; Spastic paraplegia due to neuropathy target esterase mutation (ORPHA:139480)
Gene: PNPLA6
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Severe short stature (HP:0003510)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Hyperactive patellar reflex (HP:0007083)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE (OMIM:612020)
Gene: PNPLA6
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Progressive (HP:0003676)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Unsteady gait (HP:0002317)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Oliver-McFarlane syndrome; Trichomegaly-retina pigmentary degeneration-dwarfism syndrome; Long eyelashes-intellectual disability syndrome (ORPHA:3363)
Gene: PNPLA6
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: LAURENCE-MOON SYNDROME (OMIM:245800)
Gene: PNPLA6
Phenotype: Displacement of the urethral meatus (HP:0100627)
Associated disease: LMS; Laurence-Moon syndrome (ORPHA:2377)
Gene: PNPLA6
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PNPLA6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: PNPLA6
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Atrophy of the spinal cord (HP:0006827)
Associated disease: Spastic paraplegia due to NTE mutation; SPG39; Autosomal recessive spastic paraplegia type 39; Spastic paraplegia due to neuropathy target esterase mutation (ORPHA:139480)
Gene: PNPLA6
Phenotype: Atrophy of the spinal cord (HP:0006827)
Associated disease: SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE (OMIM:612020)
Gene: PNPLA6
Phenotype: Decreased Achilles reflex (HP:0009072)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Nystagmus (HP:0000639)
Associated disease: OLIVER-MCFARLANE SYNDROME (OMIM:275400)
Gene: PNPLA6
Phenotype: Nystagmus (HP:0000639)
Associated disease: LMS; Laurence-Moon syndrome (ORPHA:2377)
Gene: PNPLA6
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: PNPLA6
Phenotype: Nystagmus (HP:0000639)
Associated disease: LAURENCE-MOON SYNDROME (OMIM:245800)
Gene: PNPLA6
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Cerebellar ataxia-hypogonadism syndrome; Gordon-Holmes syndrome; Luteinizing hormone-releasing hormone deficiency with ataxia (ORPHA:1173)
Gene: PNPLA6
Phenotype: Photophobia (HP:0000613)
Associated disease: BOUCHER-NEUHAUSER SYNDROME (OMIM:215470)
Gene: PNPLA6
Phenotype: Iris coloboma (HP:0000612)
Associated disease: LMS; Laurence-Moon syndrome (ORPHA:2377)
Gene: PNPLA6
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE (OMIM:612020)
Gene: PNPLA6
Phenotype: Generalized limb muscle atrophy (HP:0009055)
Associated disease: Spastic paraplegia due to NTE mutation; SPG39; Autosomal recessive spastic paraplegia type 39; Spastic paraplegia due to neuropathy target esterase mutation (ORPHA:139480)
Gene: PNPLA6
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PNPLA6
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PNPLA6
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PNPLA6
Phenotype: Short stature (HP:0004322)
Associated disease: LMS; Laurence-Moon syndrome (ORPHA:2377)