TaoMedAI/RareMedData huggingface dataset:
Gene: DONSON
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DONSON
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Humeroradial synostosis (HP:0003041)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Mesomelia (HP:0003027)
Associated disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES (OMIM:617604)
Gene: DONSON
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Narrow chest (HP:0000774)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Short tibia (HP:0005736)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Missing ribs (HP:0000921)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DONSON
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES (OMIM:617604)
Gene: DONSON
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DONSON
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DONSON
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Patellar aplasia (HP:0006443)
Associated disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES (OMIM:617604)
Gene: DONSON
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES (OMIM:617604)
Gene: DONSON
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES (OMIM:617604)
Gene: DONSON
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DONSON
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DONSON
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES (OMIM:617604)
Gene: DONSON
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DONSON
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DONSON
Phenotype: Low-set ears (HP:0000369)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DONSON
Phenotype: Micrognathia (HP:0000347)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Micromelia (HP:0002983)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES (OMIM:617604)
Gene: DONSON
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES (OMIM:617604)
Gene: DONSON
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DONSON
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Short neck (HP:0000470)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES (OMIM:617604)
Gene: DONSON
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Wide nose (HP:0000445)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DONSON
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES (OMIM:617604)
Gene: DONSON
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROCEPHALY-MICROMELIA SYNDROME (OMIM:251230)
Gene: DONSON
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DONSON
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LMCD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: LMCD1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: LMCD1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: LMCD1
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: LMCD1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: LMCD1
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: BICRA
Phenotype: Noncommunicating hydrocephalus (HP:0010953)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Hippocampal atrophy (HP:0410170)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Simple ear (HP:0020206)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: High anterior hairline (HP:0009890)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Seizure (HP:0001250)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Hypotonia (HP:0001252)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Slender finger (HP:0001238)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Hypospadias (HP:0000047)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Enlarged cerebellum (HP:0012081)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Scoliosis (HP:0002650)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Celiac disease (HP:0002608)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Frontal bossing (HP:0002007)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Midface retrusion (HP:0011800)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Prominent glabella (HP:0002057)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Large earlobe (HP:0009748)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Facial palsy (HP:0010628)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Developmental regression (HP:0002376)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Ridged cranial sutures (HP:0010823)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Short thumb (HP:0009778)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Low hanging columella (HP:0009765)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Chiari malformation (HP:0002308)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Hypotelorism (HP:0000601)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Broad thumb (HP:0011304)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Synophrys (HP:0000664)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Short stature (HP:0004322)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Autistic behavior (HP:0000729)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Atypical behavior (HP:0000708)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Overfolding of the superior helices (HP:0004453)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Inverted nipples (HP:0003186)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Epicanthus (HP:0000286)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Full cheeks (HP:0000293)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Macrocephaly (HP:0000256)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Microcephaly (HP:0000252)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: High palate (HP:0000218)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Hip subluxation (HP:0030043)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Prominent antihelix (HP:0000395)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Oral motor hypotonia (HP:0030190)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Low-set ears (HP:0000369)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Narrow forehead (HP:0000341)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Micrognathia (HP:0000347)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Hypertelorism (HP:0000316)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Heart murmur (HP:0030148)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Pointed chin (HP:0000307)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Prominent nasal tip (HP:0005274)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Strabismus (HP:0000486)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Deeply set eye (HP:0000490)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Small nail (HP:0001792)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Anteverted nares (HP:0000463)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Chronic constipation (HP:0012450)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Bulbous nose (HP:0000414)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Protruding ear (HP:0000411)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Long eyelashes (HP:0000527)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Hypermetropia (HP:0000540)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: BICRA
Phenotype: Myopia (HP:0000545)
Associated disease: COFFIN-SIRIS SYNDROME 12 (OMIM:619325)
Gene: TNPO2
Phenotype: Hypertonia (HP:0001276)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Ataxia (HP:0001251)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Inability to walk (HP:0002540)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Absent speech (HP:0001344)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Tremor (HP:0001337)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Myopathic facies (HP:0002058)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Large fleshy ears (HP:0002265)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Retrognathia (HP:0000278)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Narrow forehead (HP:0000341)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Long philtrum (HP:0000343)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Short philtrum (HP:0000322)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)
Gene: TNPO2
Phenotype: Astigmatism (HP:0000483)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES (OMIM:619556)