TaoMedAI/RareMedData huggingface dataset:
Gene: STAC3
Phenotype: Multiple skeletal anomalies (HP:0005775)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Increased intramyocellular lipid droplets (HP:0012240)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Congenital contracture (HP:0002803)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Microcephaly (HP:0000252)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Brachycephaly (HP:0000248)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: High palate (HP:0000218)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: High palate (HP:0000218)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Camptodactyly (HP:0012385)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Low-set ears (HP:0000369)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Micrognathia (HP:0000347)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Micrognathia (HP:0000347)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Facial hemangioma (HP:0000329)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Hypercapnia (HP:0012416)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Hypoxemia (HP:0012418)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Congenital myopathy-cleft palate-malignant hyperthermia syndrome; Native American myopathy (ORPHA:168572)
Gene: STAC3
Phenotype: Telecanthus (HP:0000506)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Ptosis (HP:0000508)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: STAC3
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: MYOPATHY, CONGENITAL, BAILEY-BLOCH (OMIM:255995)
Gene: TECRL
Phenotype: Syncope (HP:0001279)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 (OMIM:614021)
Gene: TECRL
Phenotype: Syncope (HP:0001279)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: TECRL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 (OMIM:614021)
Gene: TECRL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TECRL
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 (OMIM:614021)
Gene: TECRL
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: TECRL
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: TECRL
Phenotype: Paroxysmal ventricular tachycardia (HP:0004751)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 (OMIM:614021)
Gene: TECRL
Phenotype: Vertigo (HP:0002321)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: TECRL
Phenotype: Juvenile onset (HP:0003621)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 (OMIM:614021)
Gene: TECRL
Phenotype: Bidirectional ventricular tachycardia (HP:0034040)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 (OMIM:614021)
Gene: TECRL
Phenotype: Palpitations (HP:0001962)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 (OMIM:614021)
Gene: TECRL
Phenotype: Palpitations (HP:0001962)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: TECRL
Phenotype: Childhood onset (HP:0011463)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 (OMIM:614021)
Gene: TECRL
Phenotype: Young adult onset (HP:0011462)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 (OMIM:614021)
Gene: TECRL
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TECRL
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: TECRL
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 (OMIM:614021)
Gene: TECRL
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 (OMIM:614021)
Gene: TECRL
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: TECRL
Phenotype: Sudden death (HP:0001699)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 (OMIM:614021)
Gene: TECRL
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TECRL
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TECRL
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: TECRL
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 (OMIM:614021)
Gene: TECRL
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: TECRL
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TECRL
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 (OMIM:614021)
Gene: TECRL
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TECRL
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: TECRL
Phenotype: Premature ventricular contraction (HP:0006682)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 (OMIM:614021)
Gene: TECRL
Phenotype: Polymorphic ventricular tachycardia (HP:0031677)
Associated disease: Bidirectional ventricular tachycardia induced by catecholamine; Catecholaminergic polymorphic ventricular tachycardia; Malignant paroxysmal ventricular tachycardia; CPVT; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Gene: TECRL
Phenotype: Polymorphic ventricular tachycardia (HP:0031677)
Associated disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3 (OMIM:614021)
Gene: EBF3
Phenotype: Tapered finger (HP:0001182)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Tapered finger (HP:0001182)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Poor speech (HP:0002465)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Cochlear malformation (HP:0008554)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Poor head control (HP:0002421)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Motor delay (HP:0001270)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Seizure (HP:0001250)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Seizure (HP:0001250)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Ataxia (HP:0001251)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Ataxia (HP:0001251)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Dysarthria (HP:0001260)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Spasticity (HP:0001257)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Functional abnormality of the bladder (HP:0000009)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Dysmetria (HP:0001310)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Cleft palate (HP:0000175)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Floppy infant (HP:0008947)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Floppy infant (HP:0008947)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Anal atresia (HP:0002023)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Deep philtrum (HP:0002002)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Dysphagia (HP:0002015)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Gait ataxia (HP:0002066)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Myopathic facies (HP:0002058)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Broad-based gait (HP:0002136)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Clonus (HP:0002169)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Broad chin (HP:0011822)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Inferior cerebellar vermis hypoplasia (HP:0007068)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Scapular winging (HP:0003691)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Short metatarsal (HP:0010743)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Neonatal onset (HP:0003623)
Associated disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME (OMIM:617330)
Gene: EBF3
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Abnormal morphology of the vestibule of the inner ear (HP:0011376)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)
Gene: EBF3
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Distal deletion 10q syndrome; Monosomy 10qter; Telomeric deletion 10q; Deletion 10qter; Distal monosomy 10q (ORPHA:96148)