TaoMedAI/RareMedData huggingface dataset:
Gene: BRPF1
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Growth delay (HP:0001510)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Flat face (HP:0012368)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Congenital pseudoarthrosis of the clavicle (HP:0006585)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Low-set ears (HP:0000369)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Long philtrum (HP:0000343)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Broad forehead (HP:0000337)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Round face (HP:0000311)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Short philtrum (HP:0000322)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Short philtrum (HP:0000322)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Strabismus (HP:0000486)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Prominent nose (HP:0000448)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Overlapping toe (HP:0001845)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Ptosis (HP:0000508)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: BRPF1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS (OMIM:617333)
Gene: BRPF1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: MAPKAPK3
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAPKAPK3
Phenotype: Macular atrophy (HP:0007401)
Associated disease: MACULAR DYSTROPHY, PATTERNED, 3 (OMIM:617111)
Gene: MAPKAPK3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAPKAPK3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAPKAPK3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MACULAR DYSTROPHY, PATTERNED, 3 (OMIM:617111)
Gene: MAPKAPK3
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAPKAPK3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAPKAPK3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: MACULAR DYSTROPHY, PATTERNED, 3 (OMIM:617111)
Gene: MAPKAPK3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAPKAPK3
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAPKAPK3
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAPKAPK3
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAPKAPK3
Phenotype: Young adult onset (HP:0011462)
Associated disease: MACULAR DYSTROPHY, PATTERNED, 3 (OMIM:617111)
Gene: MAPKAPK3
Phenotype: Choroidal neovascularization (HP:0011506)
Associated disease: MACULAR DYSTROPHY, PATTERNED, 3 (OMIM:617111)
Gene: MAPKAPK3
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAPKAPK3
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAPKAPK3
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAPKAPK3
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: MACULAR DYSTROPHY, PATTERNED, 3 (OMIM:617111)
Gene: MAPKAPK3
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAPKAPK3
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MAPKAPK3
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLMAP
Phenotype: Syncope (HP:0001279)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SLMAP
Phenotype: Trifascicular block (HP:0011715)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SLMAP
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SLMAP
Phenotype: Sick sinus syndrome (HP:0011704)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SLMAP
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SLMAP
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SLMAP
Phenotype: Paroxysmal ventricular tachycardia (HP:0004751)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SLMAP
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SLMAP
Phenotype: ST segment elevation (HP:0012251)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SLMAP
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SLMAP
Phenotype: Tachycardia (HP:0001649)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: SLMAP
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Idiopathic ventricular fibrillation, Brugada type; Brugada syndrome (ORPHA:130)
Gene: MANF
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DIABETES, DEAFNESS, DEVELOPMENTAL DELAY, AND SHORT STATURE SYNDROME (OMIM:620651)
Gene: MANF
Phenotype: Decreased thyroid-stimulating hormone level (HP:0031098)
Associated disease: DIABETES, DEAFNESS, DEVELOPMENTAL DELAY, AND SHORT STATURE SYNDROME (OMIM:620651)
Gene: MANF
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIABETES, DEAFNESS, DEVELOPMENTAL DELAY, AND SHORT STATURE SYNDROME (OMIM:620651)
Gene: MANF
Phenotype: Scoliosis (HP:0002650)
Associated disease: DIABETES, DEAFNESS, DEVELOPMENTAL DELAY, AND SHORT STATURE SYNDROME (OMIM:620651)
Gene: MANF
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: DIABETES, DEAFNESS, DEVELOPMENTAL DELAY, AND SHORT STATURE SYNDROME (OMIM:620651)
Gene: MANF
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DIABETES, DEAFNESS, DEVELOPMENTAL DELAY, AND SHORT STATURE SYNDROME (OMIM:620651)
Gene: MANF
Phenotype: Short stature (HP:0004322)
Associated disease: DIABETES, DEAFNESS, DEVELOPMENTAL DELAY, AND SHORT STATURE SYNDROME (OMIM:620651)
Gene: MANF
Phenotype: Young adult onset (HP:0011462)
Associated disease: DIABETES, DEAFNESS, DEVELOPMENTAL DELAY, AND SHORT STATURE SYNDROME (OMIM:620651)
Gene: MANF
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: DIABETES, DEAFNESS, DEVELOPMENTAL DELAY, AND SHORT STATURE SYNDROME (OMIM:620651)
Gene: MANF
Phenotype: Hypopituitarism (HP:0040075)
Associated disease: DIABETES, DEAFNESS, DEVELOPMENTAL DELAY, AND SHORT STATURE SYNDROME (OMIM:620651)
Gene: MANF
Phenotype: Reduced circulating growth hormone concentration (HP:0034323)
Associated disease: DIABETES, DEAFNESS, DEVELOPMENTAL DELAY, AND SHORT STATURE SYNDROME (OMIM:620651)
Gene: MANF
Phenotype: Alopecia (HP:0001596)
Associated disease: DIABETES, DEAFNESS, DEVELOPMENTAL DELAY, AND SHORT STATURE SYNDROME (OMIM:620651)
Gene: MANF
Phenotype: Microcephaly (HP:0000252)
Associated disease: DIABETES, DEAFNESS, DEVELOPMENTAL DELAY, AND SHORT STATURE SYNDROME (OMIM:620651)
Gene: MANF
Phenotype: High myopia (HP:0011003)
Associated disease: DIABETES, DEAFNESS, DEVELOPMENTAL DELAY, AND SHORT STATURE SYNDROME (OMIM:620651)
Gene: MANF
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DIABETES, DEAFNESS, DEVELOPMENTAL DELAY, AND SHORT STATURE SYNDROME (OMIM:620651)
Gene: MANF
Phenotype: Decreased circulating luteinizing hormone level (HP:0030344)
Associated disease: DIABETES, DEAFNESS, DEVELOPMENTAL DELAY, AND SHORT STATURE SYNDROME (OMIM:620651)
Gene: MANF
Phenotype: Decreased circulating follicle stimulating hormone concentration (HP:0030341)
Associated disease: DIABETES, DEAFNESS, DEVELOPMENTAL DELAY, AND SHORT STATURE SYNDROME (OMIM:620651)
Gene: USP7
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: HAO-FOUNTAIN SYNDROME (OMIM:616863)
Gene: USP7
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Seizure (HP:0001250)
Associated disease: HAO-FOUNTAIN SYNDROME (OMIM:616863)
Gene: USP7
Phenotype: Seizure (HP:0001250)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Hypotonia (HP:0001252)
Associated disease: HAO-FOUNTAIN SYNDROME (OMIM:616863)
Gene: USP7
Phenotype: Hypotonia (HP:0001252)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HAO-FOUNTAIN SYNDROME (OMIM:616863)
Gene: USP7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HAO-FOUNTAIN SYNDROME (OMIM:616863)
Gene: USP7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Micropenis (HP:0000054)
Associated disease: HAO-FOUNTAIN SYNDROME (OMIM:616863)
Gene: USP7
Phenotype: Micropenis (HP:0000054)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HAO-FOUNTAIN SYNDROME (OMIM:616863)
Gene: USP7
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Absent speech (HP:0001344)
Associated disease: HAO-FOUNTAIN SYNDROME (OMIM:616863)
Gene: USP7
Phenotype: Absent speech (HP:0001344)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HAO-FOUNTAIN SYNDROME (OMIM:616863)
Gene: USP7
Phenotype: Scoliosis (HP:0002650)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Skin-picking (HP:0012166)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Poor suck (HP:0002033)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Asthma (HP:0002099)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Apraxia (HP:0002186)
Associated disease: HAO-FOUNTAIN SYNDROME (OMIM:616863)
Gene: USP7
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: HAO-FOUNTAIN SYNDROME (OMIM:616863)
Gene: USP7
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Impulsivity (HP:0100710)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Dilated third ventricle (HP:0007082)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Small hand (HP:0200055)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)
Gene: USP7
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: HAO-FOUNTAIN SYNDROME (OMIM:616863)
Gene: USP7
Phenotype: Nystagmus (HP:0000639)
Associated disease: Hao-Fountain syndrome due to 16p13.2 microdeletion; Del(16)(p13.2); Monosomy 16p13.2; Chromosome 16p13.2 deletion syndrome (ORPHA:500055)