TaoMedAI/RareMedData huggingface dataset:
Gene: LAMA5
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Decreased calvarial ossification (HP:0005474)
Associated disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Gene: LAMA5
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA5
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Steroid-resistant nephrotic syndrome (HP:0012588)
Associated disease: NEPHROTIC SYNDROME, TYPE 26 (OMIM:620049)
Gene: LAMA5
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: LAMA5
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LAMA5
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMB1
Phenotype: Type II lissencephaly (HP:0007260)
Associated disease: LISSENCEPHALY 5 (OMIM:615191)
Gene: LAMB1
Phenotype: Type II lissencephaly (HP:0007260)
Associated disease: Lissencephaly type 2 without muscular or eye involvement; Cobblestone lissencephaly without muscular or eye involvement; Lissencephaly type 2 without muscular or ocular involvement; Cobblestone lissencephaly without muscular or ocular involvement (ORPHA:352682)
Gene: LAMB1
Phenotype: Motor delay (HP:0001270)
Associated disease: LISSENCEPHALY 5 (OMIM:615191)
Gene: LAMB1
Phenotype: Seizure (HP:0001250)
Associated disease: LISSENCEPHALY 5 (OMIM:615191)
Gene: LAMB1
Phenotype: Seizure (HP:0001250)
Associated disease: Lissencephaly type 2 without muscular or eye involvement; Cobblestone lissencephaly without muscular or eye involvement; Lissencephaly type 2 without muscular or ocular involvement; Cobblestone lissencephaly without muscular or ocular involvement (ORPHA:352682)
Gene: LAMB1
Phenotype: Hypotonia (HP:0001252)
Associated disease: LISSENCEPHALY 5 (OMIM:615191)
Gene: LAMB1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LISSENCEPHALY 5 (OMIM:615191)
Gene: LAMB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LISSENCEPHALY 5 (OMIM:615191)
Gene: LAMB1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: LISSENCEPHALY 5 (OMIM:615191)
Gene: LAMB1
Phenotype: Dysgyria (HP:0032398)
Associated disease: Lissencephaly type 2 without muscular or eye involvement; Cobblestone lissencephaly without muscular or eye involvement; Lissencephaly type 2 without muscular or ocular involvement; Cobblestone lissencephaly without muscular or ocular involvement (ORPHA:352682)
Gene: LAMB1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: LISSENCEPHALY 5 (OMIM:615191)
Gene: LAMB1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Lissencephaly type 2 without muscular or eye involvement; Cobblestone lissencephaly without muscular or eye involvement; Lissencephaly type 2 without muscular or ocular involvement; Cobblestone lissencephaly without muscular or ocular involvement (ORPHA:352682)
Gene: LAMB1
Phenotype: Subcortical band heterotopia (HP:0032409)
Associated disease: LISSENCEPHALY 5 (OMIM:615191)
Gene: LAMB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LISSENCEPHALY 5 (OMIM:615191)
Gene: LAMB1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: LISSENCEPHALY 5 (OMIM:615191)
Gene: LAMB1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Lissencephaly type 2 without muscular or eye involvement; Cobblestone lissencephaly without muscular or eye involvement; Lissencephaly type 2 without muscular or ocular involvement; Cobblestone lissencephaly without muscular or ocular involvement (ORPHA:352682)
Gene: LAMB1
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: LISSENCEPHALY 5 (OMIM:615191)
Gene: LAMB1
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: Lissencephaly type 2 without muscular or eye involvement; Cobblestone lissencephaly without muscular or eye involvement; Lissencephaly type 2 without muscular or ocular involvement; Cobblestone lissencephaly without muscular or ocular involvement (ORPHA:352682)
Gene: LAMB1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: LISSENCEPHALY 5 (OMIM:615191)
Gene: LAMB1
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: LISSENCEPHALY 5 (OMIM:615191)
Gene: LAMB1
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Lissencephaly type 2 without muscular or eye involvement; Cobblestone lissencephaly without muscular or eye involvement; Lissencephaly type 2 without muscular or ocular involvement; Cobblestone lissencephaly without muscular or ocular involvement (ORPHA:352682)
Gene: LAMB1
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: LISSENCEPHALY 5 (OMIM:615191)
Gene: LAMB1
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Lissencephaly type 2 without muscular or eye involvement; Cobblestone lissencephaly without muscular or eye involvement; Lissencephaly type 2 without muscular or ocular involvement; Cobblestone lissencephaly without muscular or ocular involvement (ORPHA:352682)
Gene: LAMB1
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: LISSENCEPHALY 5 (OMIM:615191)
Gene: LAMB1
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: Lissencephaly type 2 without muscular or eye involvement; Cobblestone lissencephaly without muscular or eye involvement; Lissencephaly type 2 without muscular or ocular involvement; Cobblestone lissencephaly without muscular or ocular involvement (ORPHA:352682)
Gene: LAMB1
Phenotype: Progressive (HP:0003676)
Associated disease: LISSENCEPHALY 5 (OMIM:615191)
Gene: LAMB1
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: LISSENCEPHALY 5 (OMIM:615191)
Gene: LAMB1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: LISSENCEPHALY 5 (OMIM:615191)
Gene: LAMB1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Lissencephaly type 2 without muscular or eye involvement; Cobblestone lissencephaly without muscular or eye involvement; Lissencephaly type 2 without muscular or ocular involvement; Cobblestone lissencephaly without muscular or ocular involvement (ORPHA:352682)
Gene: LAMB1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Lissencephaly type 2 without muscular or eye involvement; Cobblestone lissencephaly without muscular or eye involvement; Lissencephaly type 2 without muscular or ocular involvement; Cobblestone lissencephaly without muscular or ocular involvement (ORPHA:352682)
Gene: LAMB1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: LISSENCEPHALY 5 (OMIM:615191)
Gene: LAMB1
Phenotype: Cerebellar hemisphere hypoplasia (HP:0100307)
Associated disease: LISSENCEPHALY 5 (OMIM:615191)
Gene: LAMB1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: LISSENCEPHALY 5 (OMIM:615191)
Gene: LAMB1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: LISSENCEPHALY 5 (OMIM:615191)
Gene: LAMB1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Lissencephaly type 2 without muscular or eye involvement; Cobblestone lissencephaly without muscular or eye involvement; Lissencephaly type 2 without muscular or ocular involvement; Cobblestone lissencephaly without muscular or ocular involvement (ORPHA:352682)
Gene: LAMB1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: LISSENCEPHALY 5 (OMIM:615191)
Gene: LAMB1
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Lissencephaly type 2 without muscular or eye involvement; Cobblestone lissencephaly without muscular or eye involvement; Lissencephaly type 2 without muscular or ocular involvement; Cobblestone lissencephaly without muscular or ocular involvement (ORPHA:352682)
Gene: LAMB1
Phenotype: Cataract (HP:0000518)
Associated disease: LISSENCEPHALY 5 (OMIM:615191)
Gene: LAMB2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
Gene: LAMB2
Phenotype: Macular hypoplasia (HP:0001104)
Associated disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
Gene: LAMB2
Phenotype: Macular hypoplasia (HP:0001104)
Associated disease: Microcoria-congenital nephrosis syndrome; Pierson syndrome (ORPHA:2670)
Gene: LAMB2
Phenotype: Macular hypoplasia (HP:0001104)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Poor head control (HP:0002421)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Motor delay (HP:0001270)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Motor delay (HP:0001270)
Associated disease: Microcoria-congenital nephrosis syndrome; Pierson syndrome (ORPHA:2670)
Gene: LAMB2
Phenotype: Areflexia (HP:0001284)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Areflexia (HP:0001284)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Hypotonia (HP:0001252)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Microcoria-congenital nephrosis syndrome; Pierson syndrome (ORPHA:2670)
Gene: LAMB2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Microcoria-congenital nephrosis syndrome; Pierson syndrome (ORPHA:2670)
Gene: LAMB2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcoria-congenital nephrosis syndrome; Pierson syndrome (ORPHA:2670)
Gene: LAMB2
Phenotype: Congenital nephrotic syndrome (HP:0008677)
Associated disease: Microcoria-congenital nephrosis syndrome; Pierson syndrome (ORPHA:2670)
Gene: LAMB2
Phenotype: Waddling gait (HP:0002515)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Death in childhood (HP:0003819)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
Gene: LAMB2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Microcoria-congenital nephrosis syndrome; Pierson syndrome (ORPHA:2670)
Gene: LAMB2
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
Gene: LAMB2
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
Gene: LAMB2
Phenotype: Proteinuria (HP:0000093)
Associated disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
Gene: LAMB2
Phenotype: Proteinuria (HP:0000093)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Uveal ectropion (HP:0025358)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Microcoria-congenital nephrosis syndrome; Pierson syndrome (ORPHA:2670)
Gene: LAMB2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
Gene: LAMB2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Microcoria (HP:0025492)
Associated disease: Microcoria-congenital nephrosis syndrome; Pierson syndrome (ORPHA:2670)
Gene: LAMB2
Phenotype: Microcoria (HP:0025492)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: Microcoria-congenital nephrosis syndrome; Pierson syndrome (ORPHA:2670)
Gene: LAMB2
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
Gene: LAMB2
Phenotype: Podocyte foot process effacement (HP:0031266)
Associated disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
Gene: LAMB2
Phenotype: Limited wrist extension (HP:0006251)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Hypoventilation (HP:0002791)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
Gene: LAMB2
Phenotype: Renal interstitial foam cells (HP:0032582)
Associated disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
Gene: LAMB2
Phenotype: Poor suck (HP:0002033)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Abnormal synaptic transmission at the neuromuscular junction (HP:0003398)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Decreased size of nerve terminals (HP:0003443)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Prolonged miniature endplate currents (HP:0003436)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
Gene: LAMB2
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
Gene: LAMB2
Phenotype: Congenital onset (HP:0003577)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Type 2 muscle fiber atrophy (HP:0003554)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Facial palsy (HP:0010628)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Scapular winging (HP:0003691)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Frequent falls (HP:0002359)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Tube feeding (HP:0033454)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
Gene: LAMB2
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
Gene: LAMB2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Microcoria-congenital nephrosis syndrome; Pierson syndrome (ORPHA:2670)
Gene: LAMB2
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
Gene: LAMB2
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: Microcoria-congenital nephrosis syndrome; Pierson syndrome (ORPHA:2670)
Gene: LAMB2
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Blindness (HP:0000618)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
Gene: LAMB2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Hypoproteinemia (HP:0003075)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
Gene: LAMB2
Phenotype: Hematuria (HP:0000790)
Associated disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
Gene: LAMB2
Phenotype: Myopathy (HP:0003198)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Retinal vascular tortuosity (HP:0012841)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Posterior lenticonus (HP:0011502)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Hypertension (HP:0000822)
Associated disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)
Gene: LAMB2
Phenotype: Hypertension (HP:0000822)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Edema (HP:0000969)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Spherophakia (HP:0034375)
Associated disease: Microcoria-congenital nephrosis syndrome; Pierson syndrome (ORPHA:2670)
Gene: LAMB2
Phenotype: Hypoplasia of the ciliary body (HP:0007774)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Abnormality of the knee (HP:0002815)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Microcephaly (HP:0000252)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: High palate (HP:0000218)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Microcoria-congenital nephrosis syndrome; Pierson syndrome (ORPHA:2670)
Gene: LAMB2
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Triangular mouth (HP:0000207)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Unfavorable response of muscle weakness to acetylcholine esterase inhibitors (HP:0030203)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Hypopigmentation of the fundus (HP:0007894)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Weak cry (HP:0001612)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: High myopia (HP:0011003)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Limited extraocular movements (HP:0007941)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: LAMB2
Phenotype: Persistent head lag (HP:0032988)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Remnants of the hyaloid vascular system (HP:0007968)
Associated disease: Microcoria-congenital nephrosis syndrome; Pierson syndrome (ORPHA:2670)
Gene: LAMB2
Phenotype: Remnants of the hyaloid vascular system (HP:0007968)
Associated disease: PIERSON SYNDROME (OMIM:609049)
Gene: LAMB2
Phenotype: Strabismus (HP:0000486)
Associated disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES (OMIM:614199)