TaoMedAI/RareMedData huggingface dataset:
Gene: D2HGDH
Phenotype: Infantile spasms (HP:0012469)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Gene: D2HGDH
Phenotype: Prominent forehead (HP:0011220)
Associated disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 (OMIM:600721)
Gene: CCR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: POLYCYSTIC LUNG DISEASE (OMIM:219600)
Gene: CCR2
Phenotype: Recurrent infections (HP:0002719)
Associated disease: POLYCYSTIC LUNG DISEASE (OMIM:219600)
Gene: CCR2
Phenotype: Multiple pulmonary cysts (HP:0005948)
Associated disease: POLYCYSTIC LUNG DISEASE (OMIM:219600)
Gene: CCR2
Phenotype: Spontaneous neonatal pneumothorax (HP:0004876)
Associated disease: POLYCYSTIC LUNG DISEASE (OMIM:219600)
Gene: SFTPA2
Phenotype: Honeycomb lung (HP:0025175)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA2
Phenotype: Ground-glass opacification (HP:0025179)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA2
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA2
Phenotype: Cirrhosis (HP:0001394)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: SFTPA2
Phenotype: Reticular pattern on pulmonary HRCT (HP:0025390)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: SFTPA2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA2
Phenotype: Dyspnea (HP:0002094)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: SFTPA2
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: SFTPA2
Phenotype: Pulmonic regurgitation (HP:0010444)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA2
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA2
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA2
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: SFTPA2
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA2
Phenotype: Increased circulating immunoglobulin concentration (HP:0010702)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: SFTPA2
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA2
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: SFTPA2
Phenotype: Orthodeoxia (HP:0033367)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA2
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA2
Phenotype: Usual interstitial pneumonia (HP:0031950)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA2
Phenotype: Usual interstitial pneumonia (HP:0031950)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: SFTPA2
Phenotype: Cough (HP:0012735)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: SFTPA2
Phenotype: Cough (HP:0012735)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA2
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: SFTPA2
Phenotype: Decreased DLCO (HP:0045051)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA2
Phenotype: Crackles (HP:0030830)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA2
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: SFTPA2
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA2
Phenotype: Fatigue (HP:0012378)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA2
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA2
Phenotype: Alveolar cell carcinoma (HP:0006519)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: SFTPA2
Phenotype: Subpleural honeycombing (HP:0031631)
Associated disease: IPF; Idiopathic pulmonary fibrosis (ORPHA:2032)
Gene: SFTPA2
Phenotype: Elevated bronchoalveolar lavage fluid neutrophil proportion (HP:0032977)
Associated disease: PULMONARY FIBROSIS, IDIOPATHIC (OMIM:178500)
Gene: PLIN4
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: VACUOLAR NEUROMYOPATHY (OMIM:601846)
Gene: PLIN4
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: VACUOLAR NEUROMYOPATHY (OMIM:601846)
Gene: PLIN4
Phenotype: Variable expressivity (HP:0003828)
Associated disease: VACUOLAR NEUROMYOPATHY (OMIM:601846)
Gene: PLIN4
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: VACUOLAR NEUROMYOPATHY (OMIM:601846)
Gene: PLIN4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VACUOLAR NEUROMYOPATHY (OMIM:601846)
Gene: PLIN4
Phenotype: Dysphagia (HP:0002015)
Associated disease: VACUOLAR NEUROMYOPATHY (OMIM:601846)
Gene: PLIN4
Phenotype: Adult onset (HP:0003581)
Associated disease: VACUOLAR NEUROMYOPATHY (OMIM:601846)
Gene: PLIN4
Phenotype: Muscle fiber splitting (HP:0003555)
Associated disease: VACUOLAR NEUROMYOPATHY (OMIM:601846)
Gene: PLIN4
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: VACUOLAR NEUROMYOPATHY (OMIM:601846)
Gene: PLIN4
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: VACUOLAR NEUROMYOPATHY (OMIM:601846)
Gene: PLIN4
Phenotype: Scapular winging (HP:0003691)
Associated disease: VACUOLAR NEUROMYOPATHY (OMIM:601846)
Gene: PLIN4
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: VACUOLAR NEUROMYOPATHY (OMIM:601846)
Gene: PLIN4
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: VACUOLAR NEUROMYOPATHY (OMIM:601846)
Gene: PLIN4
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: VACUOLAR NEUROMYOPATHY (OMIM:601846)
Gene: PLIN4
Phenotype: Dysphonia (HP:0001618)
Associated disease: VACUOLAR NEUROMYOPATHY (OMIM:601846)
Gene: PLIN4
Phenotype: Pes cavus (HP:0001761)
Associated disease: VACUOLAR NEUROMYOPATHY (OMIM:601846)
Gene: CRPPA
Phenotype: Adducted thumb (HP:0001181)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Limb-girdle muscle atrophy (HP:0003797)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: CRPPA
Phenotype: Meningocele (HP:0002435)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: CRPPA
Phenotype: Type II lissencephaly (HP:0007260)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Microtia (HP:0008551)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Calf muscle pseudohypertrophy (HP:0003707)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2U; LGMD type 2U; ISPD-related limb-girdle muscular dystrophy R20; LGMD2U; Limb-girdle muscular dystrophy type 2U; ISPD-related LGMD R20 (ORPHA:352479)
Gene: CRPPA
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: CRPPA
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Hypertonia (HP:0001276)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: CRPPA
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: CRPPA
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Motor delay (HP:0001270)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: CRPPA
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: CRPPA
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: CRPPA
Phenotype: Areflexia (HP:0001284)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Areflexia (HP:0001284)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Seizure (HP:0001250)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: CRPPA
Phenotype: Seizure (HP:0001250)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Hypotonia (HP:0001252)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Hypotonia (HP:0001252)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: CRPPA
Phenotype: Hypotonia (HP:0001252)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: CRPPA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Subcortical heterotopia (HP:0032391)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: CRPPA
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 (OMIM:616052)
Gene: CRPPA
Phenotype: Abnormal cortical gyration (HP:0002536)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 (OMIM:616052)
Gene: CRPPA
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2U; LGMD type 2U; ISPD-related limb-girdle muscular dystrophy R20; LGMD2U; Limb-girdle muscular dystrophy type 2U; ISPD-related LGMD R20 (ORPHA:352479)
Gene: CRPPA
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: CRPPA
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 (OMIM:616052)
Gene: CRPPA
Phenotype: Death in childhood (HP:0003819)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Facial diplegia (HP:0001349)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: CRPPA
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: CRPPA
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Specific learning disability (HP:0001328)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 (OMIM:616052)
Gene: CRPPA
Phenotype: Muscle weakness (HP:0001324)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Lissencephaly (HP:0001339)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Lissencephaly (HP:0001339)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 (OMIM:616052)
Gene: CRPPA
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Pachygyria (HP:0001302)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Pachygyria (HP:0001302)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: CRPPA
Phenotype: Pachygyria (HP:0001302)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: CRPPA
Phenotype: Bifid uvula (HP:0000193)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Macroglossia (HP:0000158)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 (OMIM:616052)
Gene: CRPPA
Phenotype: Macroglossia (HP:0000158)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2U; LGMD type 2U; ISPD-related limb-girdle muscular dystrophy R20; LGMD2U; Limb-girdle muscular dystrophy type 2U; ISPD-related LGMD R20 (ORPHA:352479)
Gene: CRPPA
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Cleft palate (HP:0000175)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2U; LGMD type 2U; ISPD-related limb-girdle muscular dystrophy R20; LGMD2U; Limb-girdle muscular dystrophy type 2U; ISPD-related LGMD R20 (ORPHA:352479)
Gene: CRPPA
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2U; LGMD type 2U; ISPD-related limb-girdle muscular dystrophy R20; LGMD2U; Limb-girdle muscular dystrophy type 2U; ISPD-related LGMD R20 (ORPHA:352479)
Gene: CRPPA
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 (OMIM:616052)
Gene: CRPPA
Phenotype: Reduced vital capacity (HP:0002792)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2U; LGMD type 2U; ISPD-related limb-girdle muscular dystrophy R20; LGMD2U; Limb-girdle muscular dystrophy type 2U; ISPD-related LGMD R20 (ORPHA:352479)
Gene: CRPPA
Phenotype: Aplasia/Hypoplasia involving the skeletal musculature (HP:0001460)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: CRPPA
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2U; LGMD type 2U; ISPD-related limb-girdle muscular dystrophy R20; LGMD2U; Limb-girdle muscular dystrophy type 2U; ISPD-related LGMD R20 (ORPHA:352479)
Gene: CRPPA
Phenotype: Myalgia (HP:0003326)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2U; LGMD type 2U; ISPD-related limb-girdle muscular dystrophy R20; LGMD2U; Limb-girdle muscular dystrophy type 2U; ISPD-related LGMD R20 (ORPHA:352479)
Gene: CRPPA
Phenotype: Myalgia (HP:0003326)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: CRPPA
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: CRPPA
Phenotype: Encephalocele (HP:0002084)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: CRPPA
Phenotype: Muscle spasm (HP:0003394)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: CRPPA
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: CRPPA
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: CRPPA
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: CRPPA
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)