TaoMedAI/RareMedData huggingface dataset:
Gene: MYO9A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC (OMIM:618198)
Gene: MYO9A
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Neuropathic spinal arthropathy (HP:0008443)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Nystagmus (HP:0000639)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC (OMIM:618198)
Gene: MYO9A
Phenotype: Diplopia (HP:0000651)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC (OMIM:618198)
Gene: MYO9A
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC (OMIM:618198)
Gene: MYO9A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC (OMIM:618198)
Gene: MYO9A
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC (OMIM:618198)
Gene: MYO9A
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC (OMIM:618198)
Gene: MYO9A
Phenotype: Nasal regurgitation (HP:0011469)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Narrow jaw (HP:0012801)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Choking episodes (HP:0030842)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Stridor (HP:0010307)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: EMG: impaired neuromuscular transmission (HP:0100285)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Cyanosis (HP:0000961)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Long face (HP:0000276)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC (OMIM:618198)
Gene: MYO9A
Phenotype: Sudden episodic apnea (HP:0002882)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: High palate (HP:0000218)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC (OMIM:618198)
Gene: MYO9A
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Apneic episodes precipitated by illness, fatigue, stress (HP:0002872)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Camptodactyly (HP:0012385)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC (OMIM:618198)
Gene: MYO9A
Phenotype: Anti-neuromuscular Junction acetylcholine receptor antibody positivity (HP:0030208)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Dysphonia (HP:0001618)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Weak cry (HP:0001612)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Low-set ears (HP:0000369)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Microretrognathia (HP:0000308)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC (OMIM:618198)
Gene: MYO9A
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC (OMIM:618198)
Gene: MYO9A
Phenotype: Pes cavus (HP:0001761)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Ptosis (HP:0000508)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Ptosis (HP:0000508)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC (OMIM:618198)
Gene: MYO9A
Phenotype: Esotropia (HP:0000565)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYOC
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: MYOC
Phenotype: Epiphora (HP:0009926)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: MYOC
Phenotype: Corneal stromal edema (HP:0012040)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: MYOC
Phenotype: Retinal arterial occlusion (HP:0025326)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: MYOC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GLAUCOMA 1, OPEN ANGLE, A (OMIM:137750)
Gene: MYOC
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: MYOC
Phenotype: Open angle glaucoma (HP:0012108)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: MYOC
Phenotype: Iris atrophy (HP:0001089)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: MYOC
Phenotype: Iridodonesis (HP:0100693)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: MYOC
Phenotype: Amblyopia (HP:0000646)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: MYOC
Phenotype: Blepharospasm (HP:0000643)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: MYOC
Phenotype: Photophobia (HP:0000613)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: MYOC
Phenotype: Central scotoma (HP:0000603)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: MYOC
Phenotype: Retinal vein occlusion (HP:0012636)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: MYOC
Phenotype: Abnormal Descemet membrane morphology (HP:0011490)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: MYOC
Phenotype: Increased cup-to-disc ratio (HP:0012796)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: MYOC
Phenotype: Anisometropia (HP:0012803)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: MYOC
Phenotype: Deep anterior chamber (HP:0007765)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: MYOC
Phenotype: Glaucomatous visual field defect (HP:0007854)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: MYOC
Phenotype: High myopia (HP:0011003)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: MYOC
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: MYOC
Phenotype: Abnormal iris vasculature (HP:0007905)
Associated disease: GLAUCOMA 1, OPEN ANGLE, A (OMIM:137750)
Gene: MYOC
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: MYOC
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: MYOC
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: MYOC
Phenotype: Megalocornea (HP:0000485)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: MYOC
Phenotype: Reduced anterior scleral thickness (HP:0025751)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: MYOC
Phenotype: Abnormality iris morphology (HP:0000525)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: MYOC
Phenotype: Visual impairment (HP:0000505)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: MYOC
Phenotype: Glaucoma (HP:0000501)
Associated disease: GLAUCOMA 1, OPEN ANGLE, A (OMIM:137750)
Gene: MYOC
Phenotype: Glaucoma (HP:0000501)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: MYOC
Phenotype: Abnormal anterior chamber morphology (HP:0000593)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: MYOC
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: MYOC
Phenotype: Buphthalmos (HP:0000557)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: MYOC
Phenotype: Visual loss (HP:0000572)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: MYOC
Phenotype: Temporal optic disc pallor (HP:0012511)
Associated disease: Juvenile glaucoma (ORPHA:98977)
Gene: MYOC
Phenotype: Myopia (HP:0000545)
Associated disease: GLAUCOMA 1, OPEN ANGLE, A (OMIM:137750)
Gene: MYOC
Phenotype: Myopia (HP:0000545)
Associated disease: Buphthalmus; Buphthalmia; Primary congenital glaucoma; Congenital glaucoma; Buphthalmos (ORPHA:98976)
Gene: MYOD1
Phenotype: Hand clenching (HP:0001188)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Tapered finger (HP:0001182)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MYOD1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Motor delay (HP:0001270)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MYOD1
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Ureteropelvic junction obstruction (HP:0000074)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MYOD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MYOD1
Phenotype: Scoliosis (HP:0002650)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MYOD1
Phenotype: Cleft palate (HP:0000175)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MYOD1
Phenotype: Cleft palate (HP:0000175)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MYOD1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MYOD1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Absent palmar crease (HP:0010489)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MYOD1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MYOD1
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Pterygium (HP:0001059)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MYOD1
Phenotype: Hypokinesia (HP:0002375)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MYOD1
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Akinesia (HP:0002304)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MYOD1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MYOD1
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Narrow chest (HP:0000774)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Myopathy (HP:0003198)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Narrow jaw (HP:0012801)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MYOD1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MYOD1
Phenotype: High palate (HP:0000218)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MYOD1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MYOD1
Phenotype: Intestinal hypoplasia (HP:0005245)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MYOD1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MYOD1
Phenotype: Low-set ears (HP:0000369)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Long philtrum (HP:0000343)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: High forehead (HP:0000348)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Micrognathia (HP:0000347)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MYOD1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MYOD1
Phenotype: Short chin (HP:0000331)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Triangular face (HP:0000325)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MYOD1
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MYOD1
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)
Gene: MYOD1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES (OMIM:618975)