TaoMedAI/RareMedData huggingface dataset:
Gene: CYP27B1
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP27B1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP27B1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Femoral bowing (HP:0002980)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Femoral bowing (HP:0002980)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Genu varum (HP:0002970)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP27B1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Flat occiput (HP:0005469)
Associated disease: PDDRI; Vitamin D-dependency type I; Pseudovitamin D-deficient rickets; VDDR-I; 1-alpha-hydroxylase deficiency; Hypocalcemic vitamin D-dependent rickets; VDDI; Vitamin D dependent rickets type I (ORPHA:289157)
Gene: CYP27B1
Phenotype: Flat occiput (HP:0005469)
Associated disease: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A (OMIM:264700)
Gene: CYP27B1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYP27B1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CYP27B1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DAB1
Phenotype: Limb dysmetria (HP:0002406)
Associated disease: Spinocerebellar ataxia with altered vertical eye movements; SCA37; Spinocerebellar ataxia type 37 (ORPHA:363710)
Gene: DAB1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 37 (OMIM:615945)
Gene: DAB1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Spinocerebellar ataxia with altered vertical eye movements; SCA37; Spinocerebellar ataxia type 37 (ORPHA:363710)
Gene: DAB1
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA 37 (OMIM:615945)
Gene: DAB1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 37 (OMIM:615945)
Gene: DAB1
Phenotype: Falls (HP:0002527)
Associated disease: Spinocerebellar ataxia with altered vertical eye movements; SCA37; Spinocerebellar ataxia type 37 (ORPHA:363710)
Gene: DAB1
Phenotype: Tremor (HP:0001337)
Associated disease: Spinocerebellar ataxia with altered vertical eye movements; SCA37; Spinocerebellar ataxia type 37 (ORPHA:363710)
Gene: DAB1
Phenotype: Tremor (HP:0001337)
Associated disease: SPINOCEREBELLAR ATAXIA 37 (OMIM:615945)
Gene: DAB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 37 (OMIM:615945)
Gene: DAB1
Phenotype: Myoclonus (HP:0001336)
Associated disease: Spinocerebellar ataxia with altered vertical eye movements; SCA37; Spinocerebellar ataxia type 37 (ORPHA:363710)
Gene: DAB1
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPINOCEREBELLAR ATAXIA 37 (OMIM:615945)
Gene: DAB1
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: Spinocerebellar ataxia with altered vertical eye movements; SCA37; Spinocerebellar ataxia type 37 (ORPHA:363710)
Gene: DAB1
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: Spinocerebellar ataxia with altered vertical eye movements; SCA37; Spinocerebellar ataxia type 37 (ORPHA:363710)
Gene: DAB1
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Spinocerebellar ataxia with altered vertical eye movements; SCA37; Spinocerebellar ataxia type 37 (ORPHA:363710)
Gene: DAB1
Phenotype: Scanning speech (HP:0002168)
Associated disease: Spinocerebellar ataxia with altered vertical eye movements; SCA37; Spinocerebellar ataxia type 37 (ORPHA:363710)
Gene: DAB1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Spinocerebellar ataxia with altered vertical eye movements; SCA37; Spinocerebellar ataxia type 37 (ORPHA:363710)
Gene: DAB1
Phenotype: Middle age onset (HP:0003596)
Associated disease: SPINOCEREBELLAR ATAXIA 37 (OMIM:615945)
Gene: DAB1
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: Spinocerebellar ataxia with altered vertical eye movements; SCA37; Spinocerebellar ataxia type 37 (ORPHA:363710)
Gene: DAB1
Phenotype: Frequent falls (HP:0002359)
Associated disease: SPINOCEREBELLAR ATAXIA 37 (OMIM:615945)
Gene: DAB1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINOCEREBELLAR ATAXIA 37 (OMIM:615945)
Gene: DAB1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: SPINOCEREBELLAR ATAXIA 37 (OMIM:615945)
Gene: DAB1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPINOCEREBELLAR ATAXIA 37 (OMIM:615945)
Gene: DAB1
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: Spinocerebellar ataxia with altered vertical eye movements; SCA37; Spinocerebellar ataxia type 37 (ORPHA:363710)
Gene: DAB1
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA 37 (OMIM:615945)
Gene: DAB1
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: Spinocerebellar ataxia with altered vertical eye movements; SCA37; Spinocerebellar ataxia type 37 (ORPHA:363710)
Gene: DAB1
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPINOCEREBELLAR ATAXIA 37 (OMIM:615945)
Gene: DAB1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPINOCEREBELLAR ATAXIA 37 (OMIM:615945)
Gene: DAB1
Phenotype: Diffuse cerebellar atrophy (HP:0100275)
Associated disease: Spinocerebellar ataxia with altered vertical eye movements; SCA37; Spinocerebellar ataxia type 37 (ORPHA:363710)
Gene: DAB1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Spinocerebellar ataxia with altered vertical eye movements; SCA37; Spinocerebellar ataxia type 37 (ORPHA:363710)
Gene: DAB1
Phenotype: Abnormal conjugate eye movement (HP:0000549)
Associated disease: Spinocerebellar ataxia with altered vertical eye movements; SCA37; Spinocerebellar ataxia type 37 (ORPHA:363710)
Gene: CD55
Phenotype: Intestinal lymphangiectasia (HP:0002593)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Generalized edema (HP:0007430)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Clubbing (HP:0001217)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BLOOD GROUP, CROMER SYSTEM (OMIM:613793)
Gene: CD55
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Budd-Chiari syndrome (HP:0002639)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Recurrent infections (HP:0002719)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Malabsorption (HP:0002024)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Abdominal pain (HP:0002027)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Diarrhea (HP:0002014)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Vomiting (HP:0002013)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Protein-losing enteropathy (HP:0002243)
Associated disease: BLOOD GROUP, CROMER SYSTEM (OMIM:613793)
Gene: CD55
Phenotype: Abnormal intestine morphology (HP:0002242)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Juvenile onset (HP:0003621)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Anemia (HP:0001903)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Hypoproteinemia (HP:0003075)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Childhood onset (HP:0011463)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Edema (HP:0000969)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Arthralgia (HP:0002829)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Ascites (HP:0001541)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Growth delay (HP:0001510)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Hepatic vein thrombosis (HP:0030243)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Iron deficiency anemia (HP:0001891)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: CD55
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY (OMIM:226300)
Gene: DAG1
Phenotype: Poor speech (HP:0002465)
Associated disease: LGMD type 2P; Limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related LGMD R16; Autosomal recessive limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related limb-girdle muscular dystrophy R16; LGMD2P (ORPHA:280333)
Gene: DAG1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: LGMD type 2P; Limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related LGMD R16; Autosomal recessive limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related limb-girdle muscular dystrophy R16; LGMD2P (ORPHA:280333)
Gene: DAG1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Muscle-eye-brain disease with bilateral multicystic leucodystrophy; MEB disease with bilateral multicystic leucodystrophy (ORPHA:370997)
Gene: DAG1
Phenotype: Poor head control (HP:0002421)
Associated disease: Muscle-eye-brain disease with bilateral multicystic leucodystrophy; MEB disease with bilateral multicystic leucodystrophy (ORPHA:370997)
Gene: DAG1
Phenotype: Poor head control (HP:0002421)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 (OMIM:616538)
Gene: DAG1
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: Muscle-eye-brain disease with bilateral multicystic leucodystrophy; MEB disease with bilateral multicystic leucodystrophy (ORPHA:370997)
Gene: DAG1
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 (OMIM:616538)
Gene: DAG1
Phenotype: Calf muscle pseudohypertrophy (HP:0003707)
Associated disease: LGMD type 2P; Limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related LGMD R16; Autosomal recessive limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related limb-girdle muscular dystrophy R16; LGMD2P (ORPHA:280333)
Gene: DAG1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 (OMIM:616538)
Gene: DAG1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Motor delay (HP:0001270)
Associated disease: LGMD type 2P; Limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related LGMD R16; Autosomal recessive limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related limb-girdle muscular dystrophy R16; LGMD2P (ORPHA:280333)
Gene: DAG1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 (OMIM:613818)
Gene: DAG1
Phenotype: Areflexia (HP:0001284)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: LGMD type 2P; Limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related LGMD R16; Autosomal recessive limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related limb-girdle muscular dystrophy R16; LGMD2P (ORPHA:280333)
Gene: DAG1
Phenotype: Seizure (HP:0001250)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 (OMIM:616538)
Gene: DAG1
Phenotype: Hypotonia (HP:0001252)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 (OMIM:613818)
Gene: DAG1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 (OMIM:616538)
Gene: DAG1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 (OMIM:613818)
Gene: DAG1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Abnormal pons morphology (HP:0007361)
Associated disease: Muscle-eye-brain disease with bilateral multicystic leucodystrophy; MEB disease with bilateral multicystic leucodystrophy (ORPHA:370997)
Gene: DAG1
Phenotype: Abnormal cortical gyration (HP:0002536)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Waddling gait (HP:0002515)
Associated disease: LGMD type 2P; Limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related LGMD R16; Autosomal recessive limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related limb-girdle muscular dystrophy R16; LGMD2P (ORPHA:280333)
Gene: DAG1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 (OMIM:616538)
Gene: DAG1
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: Muscle-eye-brain disease with bilateral multicystic leucodystrophy; MEB disease with bilateral multicystic leucodystrophy (ORPHA:370997)
Gene: DAG1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Absent speech (HP:0001344)
Associated disease: Muscle-eye-brain disease with bilateral multicystic leucodystrophy; MEB disease with bilateral multicystic leucodystrophy (ORPHA:370997)
Gene: DAG1
Phenotype: Absent speech (HP:0001344)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 (OMIM:616538)
Gene: DAG1
Phenotype: Lissencephaly (HP:0001339)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 (OMIM:616538)
Gene: DAG1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 (OMIM:613818)
Gene: DAG1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Pachygyria (HP:0001302)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Muscle-eye-brain disease with bilateral multicystic leucodystrophy; MEB disease with bilateral multicystic leucodystrophy (ORPHA:370997)
Gene: DAG1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 (OMIM:616538)
Gene: DAG1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Cleft palate (HP:0000175)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: DAG1
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: LGMD type 2P; Limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related LGMD R16; Autosomal recessive limb-girdle muscular dystrophy type 2P; Alpha-dystroglycan-related limb-girdle muscular dystrophy R16; LGMD2P (ORPHA:280333)
Gene: DAG1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Muscle-eye-brain disease with bilateral multicystic leucodystrophy; MEB disease with bilateral multicystic leucodystrophy (ORPHA:370997)
Gene: DAG1
Phenotype: Aplasia/Hypoplasia involving the skeletal musculature (HP:0001460)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)