TaoMedAI/RareMedData huggingface dataset:
Gene: CHRNE
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: CHRNE
Phenotype: Weakness of the intrinsic hand muscles (HP:0009005)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNE
Phenotype: Thoracic kyphoscoliosis (HP:0005659)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNE
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: CHRNE
Phenotype: Orthopnea (HP:0012764)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNE
Phenotype: Myopathy (HP:0003198)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL (OMIM:605809)
Gene: CHRNE
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: CHRNE
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: CHRNE
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNE
Phenotype: Cyanosis (HP:0000961)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNE
Phenotype: Long face (HP:0000276)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: CHRNE
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: CHRNE
Phenotype: Sudden episodic apnea (HP:0002882)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL (OMIM:605809)
Gene: CHRNE
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNE
Phenotype: High palate (HP:0000218)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: CHRNE
Phenotype: High palate (HP:0000218)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNE
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNE
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: CHRNE
Phenotype: Apneic episodes precipitated by illness, fatigue, stress (HP:0002872)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL (OMIM:605809)
Gene: CHRNE
Phenotype: Ankle weakness (HP:0031374)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNE
Phenotype: Anti-neuromuscular Junction acetylcholine receptor antibody positivity (HP:0030208)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL (OMIM:616324)
Gene: CHRNE
Phenotype: Fatigable weakness of skeletal muscles (HP:0030197)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL (OMIM:616324)
Gene: CHRNE
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNE
Phenotype: Weak cry (HP:0001612)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: CHRNE
Phenotype: Weak cry (HP:0001612)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL (OMIM:605809)
Gene: CHRNE
Phenotype: Fatigable weakness of neck muscles (HP:0030199)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNE
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: CHRNE
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL (OMIM:616324)
Gene: CHRNE
Phenotype: Strabismus (HP:0000486)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: CHRNE
Phenotype: Strabismus (HP:0000486)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL (OMIM:605809)
Gene: CHRNE
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNE
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL (OMIM:616324)
Gene: CHRNE
Phenotype: Ptosis (HP:0000508)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: CHRNE
Phenotype: Ptosis (HP:0000508)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL (OMIM:616324)
Gene: CHRNE
Phenotype: Ptosis (HP:0000508)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL (OMIM:605809)
Gene: CHRNE
Phenotype: Ptosis (HP:0000508)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNE
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: CHRNE
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNE
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL (OMIM:605809)
Gene: CHRNE
Phenotype: Hip flexor weakness (HP:0012515)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: CHRNG
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Syndactyly (HP:0001159)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Nevus (HP:0003764)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Absence of labia majora (HP:0008729)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Absence of labia majora (HP:0008729)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Acetabular dysplasia (HP:0008807)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Small scrotum (HP:0000046)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNG
Phenotype: Joint dislocation (HP:0001373)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNG
Phenotype: Hypospadias (HP:0000047)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Scoliosis (HP:0002650)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Narrow mouth (HP:0000160)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Abnormality of the tongue (HP:0000157)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Cleft palate (HP:0000175)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Cleft palate (HP:0000175)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNG
Phenotype: Cleft palate (HP:0000175)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNG
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNG
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Abnormal cervical curvature (HP:0005905)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNG
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Abnormal skeletal morphology (HP:0011842)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Axillary pterygium (HP:0001060)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Axillary pterygium (HP:0001060)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Pterygium (HP:0001059)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Pterygium (HP:0001059)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Multiple pterygia (HP:0001040)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNG
Phenotype: Multiple pterygia (HP:0001040)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Symphalangism affecting the phalanges of the hand (HP:0009773)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Antecubital pterygium (HP:0009760)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Antecubital pterygium (HP:0009760)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Anterior clefting of vertebral bodies (HP:0009761)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Intercrural pterygium (HP:0009757)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Popliteal pterygium (HP:0009756)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Popliteal pterygium (HP:0009756)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Neck pterygia (HP:0009759)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Akinesia (HP:0002304)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNG
Phenotype: Amyoplasia (HP:0003634)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNG
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Hypoplastic heart (HP:0001961)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNG
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNG
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNG
Phenotype: Short stature (HP:0004322)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Short stature (HP:0004322)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Abnormal gastrointestinal tract morphology (HP:0012718)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Fetal onset (HP:0011461)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Rib fusion (HP:0000902)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Rib fusion (HP:0000902)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Exostosis of the external auditory canal (HP:0004459)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Long clavicles (HP:0000890)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Thin ribs (HP:0000883)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNG
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Edema (HP:0000969)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNG
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Short finger (HP:0009381)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNG
Phenotype: Epicanthus (HP:0000286)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Epicanthus (HP:0000286)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Epicanthus (HP:0000286)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNG
Phenotype: Long face (HP:0000276)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Long face (HP:0000276)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)