TaoMedAI/RareMedData huggingface dataset:
Gene: COLQ
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Gene: COLQ
Phenotype: Areflexia (HP:0001284)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Hypotonia (HP:0001252)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Gene: COLQ
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Dysarthria (HP:0001260)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Gene: COLQ
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Waddling gait (HP:0002515)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Gene: COLQ
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Gene: COLQ
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Gene: COLQ
Phenotype: Scoliosis (HP:0002650)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Scoliosis (HP:0002650)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Gene: COLQ
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Limited wrist extension (HP:0006251)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Hypoventilation (HP:0002791)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Gene: COLQ
Phenotype: Poor suck (HP:0002033)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Dysphagia (HP:0002015)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Dysphagia (HP:0002015)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Gene: COLQ
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Gene: COLQ
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Gene: COLQ
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Gene: COLQ
Phenotype: Abnormal synaptic transmission at the neuromuscular junction (HP:0003398)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Easy fatigability (HP:0003388)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Gene: COLQ
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Gene: COLQ
Phenotype: Decreased size of nerve terminals (HP:0003443)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Decreased size of nerve terminals (HP:0003443)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Gene: COLQ
Phenotype: Prolonged miniature endplate currents (HP:0003436)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Prolonged miniature endplate currents (HP:0003436)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Gene: COLQ
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Gene: COLQ
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Gene: COLQ
Phenotype: Congenital onset (HP:0003577)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Gene: COLQ
Phenotype: Type 2 muscle fiber atrophy (HP:0003554)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Type 2 muscle fiber atrophy (HP:0003554)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Gene: COLQ
Phenotype: Facial palsy (HP:0010628)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Scapular winging (HP:0003691)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Gene: COLQ
Phenotype: Frequent falls (HP:0002359)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Gene: COLQ
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Myopathy (HP:0003198)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Myopathy (HP:0003198)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Gene: COLQ
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Gene: COLQ
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Abnormality of the knee (HP:0002815)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: High palate (HP:0000218)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Triangular mouth (HP:0000207)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Unfavorable response of muscle weakness to acetylcholine esterase inhibitors (HP:0030203)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Anti-neuromuscular Junction acetylcholine receptor antibody positivity (HP:0030208)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Gene: COLQ
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Weak cry (HP:0001612)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Weak cry (HP:0001612)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Gene: COLQ
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Limited extraocular movements (HP:0007941)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Hand muscle weakness (HP:0030237)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Gene: COLQ
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Ptosis (HP:0000508)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Ptosis (HP:0000508)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Gene: COLQ
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Synaptic congenital myasthenic syndromes (ORPHA:98915)
Gene: COLQ
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 5 (OMIM:603034)
Gene: H4C9
Phenotype: Hypotonia (HP:0001252)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Intellectual disability (HP:0001249)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Global developmental delay (HP:0001263)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Micropenis (HP:0000054)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Scoliosis (HP:0002650)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Deep philtrum (HP:0002002)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: 3-4 finger cutaneous syndactyly (HP:0011939)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Infantile onset (HP:0003593)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Everted upper lip vermilion (HP:0010803)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Leukemia (HP:0001909)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Bicoronal synostosis (HP:0011318)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Kyphosis (HP:0002808)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Hearing impairment (HP:0000365)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Low-set ears (HP:0000369)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Narrow forehead (HP:0000341)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Micrognathia (HP:0000347)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Hypertelorism (HP:0000316)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Short philtrum (HP:0000322)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Strabismus (HP:0000486)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Sandal gap (HP:0001852)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Hallux valgus (HP:0001822)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: H4C9
Phenotype: Dilation of Virchow-Robin spaces (HP:0012520)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4 (OMIM:619951)
Gene: TRRAP
Phenotype: Poor speech (HP:0002465)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Laryngotracheomalacia (HP:0008755)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Small scrotum (HP:0000046)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 75 (OMIM:618778)
Gene: TRRAP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Scoliosis (HP:0002650)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Cleft palate (HP:0000175)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Wide mouth (HP:0000154)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Cleft lip (HP:0410030)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Renal cyst (HP:0000107)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Recurrent infections (HP:0002719)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Hypotelorism (HP:0000601)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Short stature (HP:0004322)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Hallucinations (HP:0000738)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Autistic behavior (HP:0000729)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Psychosis (HP:0000709)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)
Gene: TRRAP
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM (OMIM:618454)