TaoMedAI/RareMedData huggingface dataset:
Gene: DNAJC30
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Genu valgum (HP:0002857)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Obesity (HP:0001513)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Dysphonia (HP:0001618)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Long philtrum (HP:0000343)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Broad forehead (HP:0000337)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: High forehead (HP:0000348)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Micrognathia (HP:0000347)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Pointed chin (HP:0000307)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Slow decrease in visual acuity (HP:0007924)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: DNAJC30
Phenotype: Abnormal carotid artery morphology (HP:0005344)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Macrotia (HP:0000400)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Strabismus (HP:0000486)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Megalocornea (HP:0000485)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Pes planus (HP:0001763)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Protruding ear (HP:0000411)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Cataract (HP:0000518)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: DNAJC30
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: DNAJC30
Phenotype: Hallux valgus (HP:0001822)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Visual impairment (HP:0000505)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Glaucoma (HP:0000501)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: DNAJC30
Phenotype: Centrocecal scotoma (HP:0000576)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: DNAJC30
Phenotype: Color vision defect (HP:0000551)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: DNAJC30
Phenotype: Myopia (HP:0000545)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: RNF135
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Overgrowth-macrocephaly-facial dysmorphism syndrome (ORPHA:137634)
Gene: RNF135
Phenotype: Tall stature (HP:0000098)
Associated disease: Overgrowth-macrocephaly-facial dysmorphism syndrome (ORPHA:137634)
Gene: RNF135
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Overgrowth-macrocephaly-facial dysmorphism syndrome (ORPHA:137634)
Gene: RNF135
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Overgrowth-macrocephaly-facial dysmorphism syndrome (ORPHA:137634)
Gene: RNF135
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Overgrowth-macrocephaly-facial dysmorphism syndrome (ORPHA:137634)
Gene: RNF135
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: Overgrowth-macrocephaly-facial dysmorphism syndrome (ORPHA:137634)
Gene: RNF135
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Overgrowth-macrocephaly-facial dysmorphism syndrome (ORPHA:137634)
Gene: RNF135
Phenotype: Unilateral cryptorchidism (HP:0012741)
Associated disease: Overgrowth-macrocephaly-facial dysmorphism syndrome (ORPHA:137634)
Gene: RNF135
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: Overgrowth-macrocephaly-facial dysmorphism syndrome (ORPHA:137634)
Gene: RNF135
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Overgrowth-macrocephaly-facial dysmorphism syndrome (ORPHA:137634)
Gene: RNF135
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Overgrowth-macrocephaly-facial dysmorphism syndrome (ORPHA:137634)
Gene: RNF135
Phenotype: Aplasia/Hypoplasia of the optic nerve (HP:0008058)
Associated disease: Overgrowth-macrocephaly-facial dysmorphism syndrome (ORPHA:137634)
Gene: RNF135
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Overgrowth-macrocephaly-facial dysmorphism syndrome (ORPHA:137634)
Gene: RNF135
Phenotype: Cranial asymmetry (HP:0000267)
Associated disease: Overgrowth-macrocephaly-facial dysmorphism syndrome (ORPHA:137634)
Gene: RNF135
Phenotype: Overgrowth (HP:0001548)
Associated disease: Overgrowth-macrocephaly-facial dysmorphism syndrome (ORPHA:137634)
Gene: RNF135
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Overgrowth-macrocephaly-facial dysmorphism syndrome (ORPHA:137634)
Gene: RNF135
Phenotype: Large for gestational age (HP:0001520)
Associated disease: Overgrowth-macrocephaly-facial dysmorphism syndrome (ORPHA:137634)
Gene: RNF135
Phenotype: Speech apraxia (HP:0011098)
Associated disease: Overgrowth-macrocephaly-facial dysmorphism syndrome (ORPHA:137634)
Gene: RNF135
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Overgrowth-macrocephaly-facial dysmorphism syndrome (ORPHA:137634)
Gene: RNF135
Phenotype: Long philtrum (HP:0000343)
Associated disease: Overgrowth-macrocephaly-facial dysmorphism syndrome (ORPHA:137634)
Gene: RNF135
Phenotype: Broad forehead (HP:0000337)
Associated disease: Overgrowth-macrocephaly-facial dysmorphism syndrome (ORPHA:137634)
Gene: RNF135
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Overgrowth-macrocephaly-facial dysmorphism syndrome (ORPHA:137634)
Gene: RNF135
Phenotype: Abnormal pulmonary valve morphology (HP:0001641)
Associated disease: Overgrowth-macrocephaly-facial dysmorphism syndrome (ORPHA:137634)
Gene: RNF135
Phenotype: Strabismus (HP:0000486)
Associated disease: Overgrowth-macrocephaly-facial dysmorphism syndrome (ORPHA:137634)
Gene: RNF135
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Overgrowth-macrocephaly-facial dysmorphism syndrome (ORPHA:137634)
Gene: RNF135
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Overgrowth-macrocephaly-facial dysmorphism syndrome (ORPHA:137634)
Gene: PHF6
Phenotype: Tapered finger (HP:0001182)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Tapered finger (HP:0001182)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Seizure (HP:0001250)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Seizure (HP:0001250)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Hypotonia (HP:0001252)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Hypotonia (HP:0001252)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Shortening of all middle phalanges of the fingers (HP:0006110)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Shortening of all distal phalanges of the fingers (HP:0006118)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Hypoplasia of the prostate (HP:0008687)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Small scrotum (HP:0000046)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Micropenis (HP:0000054)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Scoliosis (HP:0002650)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Large earlobe (HP:0009748)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: EEG abnormality (HP:0002353)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Scheuermann-like vertebral changes (HP:0008478)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Cervical spinal canal stenosis (HP:0008445)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Nystagmus (HP:0000639)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Nystagmus (HP:0000639)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Truncal obesity (HP:0001956)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Short stature (HP:0004322)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Short stature (HP:0004322)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Gynecomastia (HP:0000771)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Delayed puberty (HP:0000823)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Widely spaced toes (HP:0008094)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Sparse hair (HP:0008070)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Coarse facial features (HP:0000280)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Kyphosis (HP:0002808)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Microcephaly (HP:0000252)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Microcephaly (HP:0000252)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Obesity (HP:0001513)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Macrotia (HP:0000400)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Deeply set eye (HP:0000490)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Broad foot (HP:0001769)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Cataract (HP:0000518)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Ptosis (HP:0000508)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Ptosis (HP:0000508)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Visual impairment (HP:0000505)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Short toe (HP:0001831)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Short toe (HP:0001831)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: PHF6
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Gene: PHF6
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Borjeson-Forssman-Lehmann syndrome; Intellectual disability-epilepsy-endocrine disorders syndrome; BFLS (ORPHA:127)
Gene: UQCC2
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Poor speech (HP:0002465)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)