TaoMedAI/RareMedData huggingface dataset:
Gene: TAF1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome (ORPHA:480907)
Gene: TAF1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 (OMIM:300966)
Gene: TAF1
Phenotype: Short neck (HP:0000470)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 (OMIM:300966)
Gene: TAF1
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 (OMIM:300966)
Gene: TAF1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome (ORPHA:480907)
Gene: TAF1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 (OMIM:300966)
Gene: TAF1
Phenotype: Protruding ear (HP:0000411)
Associated disease: X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome (ORPHA:480907)
Gene: TAF1
Phenotype: Protruding ear (HP:0000411)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 (OMIM:300966)
Gene: TAF1
Phenotype: Flat occiput (HP:0005469)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 (OMIM:300966)
Gene: TAF1
Phenotype: Long eyelashes (HP:0000527)
Associated disease: X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome (ORPHA:480907)
Gene: TAF1
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: TAF1
Phenotype: Proptosis (HP:0000520)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 (OMIM:300966)
Gene: TAF1
Phenotype: Nasolacrimal duct obstruction (HP:0000579)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 (OMIM:300966)
Gene: TAF1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 (OMIM:300966)
Gene: TAF1
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome (ORPHA:480907)
Gene: TAF1
Phenotype: Myopia (HP:0000545)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33 (OMIM:300966)
Gene: TAF2
Phenotype: Poor speech (HP:0002465)
Associated disease: Microcephaly-thin corpus callosum-intellectual disability syndrome (ORPHA:397951)
Gene: TAF2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 (OMIM:615599)
Gene: TAF2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Microcephaly-thin corpus callosum-intellectual disability syndrome (ORPHA:397951)
Gene: TAF2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 (OMIM:615599)
Gene: TAF2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Microcephaly-thin corpus callosum-intellectual disability syndrome (ORPHA:397951)
Gene: TAF2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 (OMIM:615599)
Gene: TAF2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephaly-thin corpus callosum-intellectual disability syndrome (ORPHA:397951)
Gene: TAF2
Phenotype: Spasticity (HP:0001257)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 (OMIM:615599)
Gene: TAF2
Phenotype: Spasticity (HP:0001257)
Associated disease: Microcephaly-thin corpus callosum-intellectual disability syndrome (ORPHA:397951)
Gene: TAF2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 (OMIM:615599)
Gene: TAF2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Microcephaly-thin corpus callosum-intellectual disability syndrome (ORPHA:397951)
Gene: TAF2
Phenotype: Absent speech (HP:0001344)
Associated disease: Microcephaly-thin corpus callosum-intellectual disability syndrome (ORPHA:397951)
Gene: TAF2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 (OMIM:615599)
Gene: TAF2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 (OMIM:615599)
Gene: TAF2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Microcephaly-thin corpus callosum-intellectual disability syndrome (ORPHA:397951)
Gene: TAF2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 (OMIM:615599)
Gene: TAF2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Microcephaly-thin corpus callosum-intellectual disability syndrome (ORPHA:397951)
Gene: TAF2
Phenotype: Babinski sign (HP:0003487)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 (OMIM:615599)
Gene: TAF2
Phenotype: Babinski sign (HP:0003487)
Associated disease: Microcephaly-thin corpus callosum-intellectual disability syndrome (ORPHA:397951)
Gene: TAF2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 (OMIM:615599)
Gene: TAF2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 (OMIM:615599)
Gene: TAF2
Phenotype: Nystagmus (HP:0000639)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 (OMIM:615599)
Gene: TAF2
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: Microcephaly-thin corpus callosum-intellectual disability syndrome (ORPHA:397951)
Gene: TAF2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 (OMIM:615599)
Gene: TAF2
Phenotype: Fetal onset (HP:0011461)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 (OMIM:615599)
Gene: TAF2
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Microcephaly-thin corpus callosum-intellectual disability syndrome (ORPHA:397951)
Gene: TAF2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 (OMIM:615599)
Gene: TAF2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Microcephaly-thin corpus callosum-intellectual disability syndrome (ORPHA:397951)
Gene: TAF2
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 (OMIM:615599)
Gene: TAF2
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 (OMIM:615599)
Gene: TAF2
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 (OMIM:615599)
Gene: TAF2
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Microcephaly-thin corpus callosum-intellectual disability syndrome (ORPHA:397951)
Gene: TAF2
Phenotype: Delayed myelination (HP:0012448)
Associated disease: Microcephaly-thin corpus callosum-intellectual disability syndrome (ORPHA:397951)
Gene: TAF2
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 (OMIM:615599)
Gene: TAF2
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Microcephaly-thin corpus callosum-intellectual disability syndrome (ORPHA:397951)
Gene: TAF2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 (OMIM:615599)
Gene: TAF2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: Microcephaly-thin corpus callosum-intellectual disability syndrome (ORPHA:397951)
Gene: TAF2
Phenotype: Exotropia (HP:0000577)
Associated disease: Microcephaly-thin corpus callosum-intellectual disability syndrome (ORPHA:397951)
Gene: TAF4
Phenotype: Expressive language delay (HP:0002474)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Excessive shyness (HP:0100962)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Microtia (HP:0008551)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Spasticity (HP:0001257)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Tall stature (HP:0000098)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Hydroureter (HP:0000072)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Flexion contracture (HP:0001371)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Prominent interphalangeal joints (HP:0006237)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Scoliosis (HP:0002650)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Cleft soft palate (HP:0000185)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Self hugging (HP:0032521)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Constipation (HP:0002019)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Deep philtrum (HP:0002002)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Short columella (HP:0002000)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Apraxia (HP:0002186)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Pica (HP:0011856)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Axillary pterygium (HP:0001060)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: U-Shaped upper lip vermilion (HP:0010806)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Drooling (HP:0002307)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Synophrys (HP:0000664)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Short stature (HP:0004322)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Self-mutilation (HP:0000742)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Autism (HP:0000717)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Young adult onset (HP:0011462)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Increased arm span (HP:0012771)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Narrow chest (HP:0000774)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Long nose (HP:0003189)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Ankyloglossia (HP:0010296)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Anteverted ears (HP:0040080)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: External tibial torsion (HP:0034373)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Retrognathia (HP:0000278)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Broad philtrum (HP:0000289)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Kyphosis (HP:0002808)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: High palate (HP:0000218)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Increased overbite (HP:0011094)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Thoracolumbar scoliosis (HP:0002944)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Low-set ears (HP:0000369)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Short chin (HP:0000331)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Short philtrum (HP:0000322)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Macrotia (HP:0000400)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Deeply set eye (HP:0000490)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Anteverted nares (HP:0000463)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Pes planus (HP:0001763)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Premature adrenarche (HP:0012412)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Prominent nose (HP:0000448)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Wide nose (HP:0000445)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Epiblepharon (HP:0011225)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Hypermetropia (HP:0000540)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73 (OMIM:620450)
Gene: TAF4B
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TAF4B
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TAF4B
Phenotype: Azoospermia (HP:0000027)
Associated disease: SPERMATOGENIC FAILURE 13 (OMIM:615841)
Gene: TAF4B
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TAF4B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 13 (OMIM:615841)
Gene: TAF4B
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TAF4B
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: SPERMATOGENIC FAILURE 13 (OMIM:615841)
Gene: TAF4B
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TAF4B
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: TAF4B
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 13 (OMIM:615841)
Gene: TAF4B
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)