TaoMedAI/RareMedData huggingface dataset:
Gene: GJB4
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 (OMIM:617524)
Gene: GJB4
Phenotype: Congenital onset (HP:0003577)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 (OMIM:617524)
Gene: GJB4
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB4
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB4
Phenotype: Skin plaque (HP:0200035)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 (OMIM:617524)
Gene: GJB4
Phenotype: Erythema (HP:0010783)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB4
Phenotype: Erythema (HP:0010783)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 (OMIM:617524)
Gene: GJB4
Phenotype: Patchy palmoplantar hyperkeratosis (HP:0005588)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB4
Phenotype: Short stature (HP:0004322)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB4
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB4
Phenotype: Macule (HP:0012733)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB4
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB4
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 (OMIM:617524)
Gene: GJB4
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB4
Phenotype: Skin rash (HP:0000988)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB4
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 (OMIM:617524)
Gene: GJB4
Phenotype: Dry skin (HP:0000958)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB4
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB4
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB4
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB4
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB4
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB4
Phenotype: Alopecia (HP:0001596)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB4
Phenotype: Microcephaly (HP:0000252)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB4
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB4
Phenotype: Protruding ear (HP:0000411)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB4
Phenotype: Cataract (HP:0000518)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB4
Phenotype: Weight loss (HP:0001824)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: GJB4
Phenotype: Glaucoma (HP:0000501)
Associated disease: Erythrokeratodermia variabilis, Mendes da Costa type; EKV; Erythrokeratodermia variabilis (ORPHA:317)
Gene: SYT2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC (OMIM:616040)
Gene: SYT2
Phenotype: Poor head control (HP:0002421)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC (OMIM:616040)
Gene: SYT2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Motor delay (HP:0001270)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Motor delay (HP:0001270)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC (OMIM:616040)
Gene: SYT2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Areflexia (HP:0001284)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC (OMIM:616040)
Gene: SYT2
Phenotype: Areflexia (HP:0001284)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Areflexia (HP:0001284)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Seizure (HP:0001250)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Ataxia (HP:0001251)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC (OMIM:616040)
Gene: SYT2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Dysarthria (HP:0001260)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Waddling gait (HP:0002515)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC (OMIM:616040)
Gene: SYT2
Phenotype: Waddling gait (HP:0002515)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC (OMIM:616040)
Gene: SYT2
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Scoliosis (HP:0002650)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Staring gaze (HP:0025401)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Poor suck (HP:0002033)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Frontalis muscle weakness (HP:0004661)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Dysphagia (HP:0002015)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Respiratory arrest (HP:0005943)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC (OMIM:616040)
Gene: SYT2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Congenital onset (HP:0003577)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Episodic respiratory distress (HP:0004885)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Intermittent episodes of respiratory insufficiency due to muscle weakness (HP:0004889)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Decreased compound muscle action potential amplitude (HP:0033383)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC (OMIM:616040)
Gene: SYT2
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC (OMIM:616040)
Gene: SYT2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC (OMIM:616040)
Gene: SYT2
Phenotype: Neuropathic spinal arthropathy (HP:0008443)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Diplopia (HP:0000651)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC (OMIM:616040)
Gene: SYT2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Nasal regurgitation (HP:0011469)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC (OMIM:616040)
Gene: SYT2
Phenotype: Fetal onset (HP:0011461)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Narrow jaw (HP:0012801)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Choking episodes (HP:0030842)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Stridor (HP:0010307)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: EMG: impaired neuromuscular transmission (HP:0100285)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Cyanosis (HP:0000961)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Long face (HP:0000276)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Sudden episodic apnea (HP:0002882)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: High palate (HP:0000218)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Apneic episodes precipitated by illness, fatigue, stress (HP:0002872)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Compound muscle action potential amplitude facilitation (HP:0025680)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC (OMIM:616040)
Gene: SYT2
Phenotype: Anti-neuromuscular Junction acetylcholine receptor antibody positivity (HP:0030208)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC (OMIM:616040)
Gene: SYT2
Phenotype: Dysphonia (HP:0001618)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Weak cry (HP:0001612)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Weak cry (HP:0001612)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC (OMIM:616040)
Gene: SYT2
Phenotype: Low-set ears (HP:0000369)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Subvalvular aortic stenosis (HP:0001682)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Weak voice (HP:0001621)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Microretrognathia (HP:0000308)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Limited extraocular movements (HP:0007941)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Pes planus (HP:0001763)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC (OMIM:616040)
Gene: SYT2
Phenotype: Hammertoe (HP:0001765)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC (OMIM:616040)
Gene: SYT2
Phenotype: Pes cavus (HP:0001761)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC (OMIM:616040)
Gene: SYT2
Phenotype: Pes cavus (HP:0001761)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE (OMIM:619461)
Gene: SYT2
Phenotype: Ptosis (HP:0000508)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SYT2
Phenotype: Esotropia (HP:0000565)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: EDARADD
Phenotype: Periorbital hyperpigmentation (HP:0001106)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDARADD
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Autosomal recessive anhidrotic ectodermal dysplasia; Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED (ORPHA:248)
Gene: EDARADD
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: EDARADD
Phenotype: Absent nipple (HP:0002561)
Associated disease: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT (OMIM:614940)
Gene: EDARADD
Phenotype: Absent nipple (HP:0002561)
Associated disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:614941)
Gene: EDARADD
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:614941)
Gene: EDARADD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Gene: EDARADD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:614941)
Gene: EDARADD
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Gene: EDARADD
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT (OMIM:614940)
Gene: EDARADD
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: AD-HED; Autosomal dominant hypohidrotic ectodermal dysplasia; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Gene: EDARADD
Phenotype: Peg-shaped maxillary lateral incisors (HP:0006342)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: EDARADD
Phenotype: Abnormal primary molar morphology (HP:0006344)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)