TaoMedAI/RareMedData huggingface dataset:
Gene: DGCR8
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Emotional lability (HP:0000712)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Retinal vascular tortuosity (HP:0012841)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Double aortic arch (HP:0011590)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Interrupted aortic arch (HP:0011611)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Retrognathia (HP:0000278)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Microcephaly (HP:0000252)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Unilateral primary pulmonary dysgenesis (HP:0006549)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Bulbous nose (HP:0000414)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Abnormality of the ear (HP:0000598)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: DGCR8
Phenotype: Talipes (HP:0001883)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: PRMT7
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Narrow naris (HP:0009933)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Seizure (HP:0001250)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Floppy infant (HP:0008947)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Short fourth metatarsal (HP:0004689)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Tethered cord (HP:0002144)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Congenital onset (HP:0003577)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Thick corpus callosum (HP:0007074)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Atonic seizure (HP:0010819)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Short metatarsal (HP:0010743)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Dacryocystitis (HP:0000620)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Short metacarpal (HP:0010049)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Frontal hirsutism (HP:0011335)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Dental crowding (HP:0000678)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Short stature (HP:0004322)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Patellar hypoplasia (HP:0003065)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Abnormal conus terminalis morphology (HP:0031938)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Short attention span (HP:0000736)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Short nose (HP:0003196)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Pseudohypoparathyroidism (HP:0000852)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Pseudohypoparathyroidism (HP:0000852)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Abnormality of the endocrine system (HP:0000818)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Soft skin (HP:0000977)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Sacral dimple (HP:0000960)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Sparse hair (HP:0008070)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Epicanthus (HP:0000286)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Retrognathia (HP:0000278)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Retrognathia (HP:0000278)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Malar flattening (HP:0000272)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Microcephaly (HP:0000252)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Microcephaly (HP:0000252)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Brachycephaly (HP:0000248)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: High palate (HP:0000218)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Obesity (HP:0001513)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Obesity (HP:0001513)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Flat face (HP:0012368)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Long philtrum (HP:0000343)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Long philtrum (HP:0000343)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Typical absence seizure (HP:0011147)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Astigmatism (HP:0000483)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Strabismus (HP:0000486)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Strabismus (HP:0000486)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Deeply set eye (HP:0000490)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Short neck (HP:0000470)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Short neck (HP:0000470)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Ptosis (HP:0000508)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Coloboma (HP:0000589)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: PRMT7
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Gene: PRMT7
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Gene: TMCO1
Phenotype: Hyperextensibility of the finger joints (HP:0001187)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Long fingers (HP:0100807)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Motor delay (HP:0001270)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Shawl scrotum (HP:0000049)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Absent speech (HP:0001344)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)
Gene: TMCO1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Pascual-Castroviejo syndrome type 1; Cerebrofaciothoracic dysplasia (ORPHA:1394)
Gene: TMCO1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME (OMIM:213980)