TaoMedAI/RareMedData huggingface dataset:
Gene: HDAC4
Phenotype: Amblyopia (HP:0000646)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC4
Phenotype: Short metacarpal (HP:0010049)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Short metacarpal (HP:0010049)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC4
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Short stature (HP:0004322)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Short stature (HP:0004322)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC4
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC4
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Hyperactivity (HP:0000752)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Autism (HP:0000717)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Autistic behavior (HP:0000729)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC4
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC4
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC4
Phenotype: Type E brachydactyly (HP:0005863)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Arrhythmia (HP:0011675)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Broad face (HP:0000283)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Malar flattening (HP:0000272)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Kyphosis (HP:0002808)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Microcephaly (HP:0000252)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC4
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Obesity (HP:0001513)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Obesity (HP:0001513)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC4
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC4
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC4
Phenotype: Subvalvular aortic stenosis (HP:0001682)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Abnormal aortic morphology (HP:0001679)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Round face (HP:0000311)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Round face (HP:0000311)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC4
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Macrotia (HP:0000400)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Astigmatism (HP:0000483)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Infantile spasms (HP:0012469)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Gene: HDAC4
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Deeply set eye (HP:0000490)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Short neck (HP:0000470)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Short foot (HP:0001773)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Wide nose (HP:0000445)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HDAC4
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Short toe (HP:0001831)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Albright hereditary osteodystrophy type 3; Del(2)(q37); Deletion 2q37; 2q37 microdeletion syndrome; Monosomy 2q37qter; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome (ORPHA:1001)
Gene: HDAC4
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Gene: HDAC4
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HDAC4
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TMEM94
Phenotype: Underfolded helix (HP:0008577)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Long fingers (HP:0100807)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Motor delay (HP:0001270)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Hypospadias (HP:0000047)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Specific learning disability (HP:0001328)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Scoliosis (HP:0002650)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Long toe (HP:0010511)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Congenital onset (HP:0003577)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Large earlobe (HP:0009748)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)