TaoMedAI/RareMedData huggingface dataset:
Gene: DYNC2I2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Bifid epiglottis (HP:0010564)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY (OMIM:615633)
Gene: DYNC2I2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Short palm (HP:0004279)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Short stature (HP:0004322)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Ectopic anus (HP:0004397)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Short long bone (HP:0003026)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY (OMIM:615633)
Gene: DYNC2I2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Abnormal pelvis bone ossification (HP:0009106)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY (OMIM:615633)
Gene: DYNC2I2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Narrow chest (HP:0000774)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Narrow chest (HP:0000774)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I2
Phenotype: Narrow chest (HP:0000774)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY (OMIM:615633)
Gene: DYNC2I2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Short ribs (HP:0000773)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Lethal skeletal dysplasia (HP:0005716)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Horizontal ribs (HP:0000888)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY (OMIM:615633)
Gene: DYNC2I2
Phenotype: Abnormal clavicle morphology (HP:0000889)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Bifid tongue (HP:0010297)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Lateral clavicle hook (HP:0000895)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY (OMIM:615633)
Gene: DYNC2I2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Absent or minimally ossified vertebral bodies (HP:0004599)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY (OMIM:615633)
Gene: DYNC2I2
Phenotype: Short thorax (HP:0010306)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I2
Phenotype: Short thorax (HP:0010306)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I2
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I2
Phenotype: Epicanthus (HP:0000286)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY (OMIM:615633)
Gene: DYNC2I2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY (OMIM:615633)
Gene: DYNC2I2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Omphalocele (HP:0001539)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Obesity (HP:0001513)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY (OMIM:615633)
Gene: DYNC2I2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Long philtrum (HP:0000343)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Micromelia (HP:0002983)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Micromelia (HP:0002983)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Thoracic dysplasia (HP:0006644)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY (OMIM:615633)
Gene: DYNC2I2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I2
Phenotype: Short foot (HP:0001773)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Short foot (HP:0001773)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Wide nose (HP:0000445)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Aplasia/Hypoplasia of the lungs (HP:0006703)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I2
Phenotype: Cataract (HP:0000518)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2I2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY (OMIM:615633)
Gene: DYNC2I2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2I2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2I2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2I2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: UBE3B
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Chorioretinal dystrophy (HP:0001135)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Choroideremia (HP:0001139)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Motor delay (HP:0001270)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Hypotonia (HP:0001252)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Absent speech (HP:0001344)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Narrow mouth (HP:0000160)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Abnormal lip morphology (HP:0000159)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Abnormal upper lip morphology (HP:0000177)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Wide mouth (HP:0000154)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Recurrent infections (HP:0002719)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Constipation (HP:0002019)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Dyspnea (HP:0002094)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Muscle flaccidity (HP:0010547)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Congenital onset (HP:0003577)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Narrow palm (HP:0004283)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Nystagmus (HP:0000639)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Nystagmus (HP:0000639)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Diastema (HP:0000699)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Microdontia (HP:0000691)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Carious teeth (HP:0000670)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Long palm (HP:0011302)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Short stature (HP:0004322)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Short nose (HP:0003196)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Hypocholesterolemia (HP:0003146)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Thin eyebrow (HP:0045074)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Thin skin (HP:0000963)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Sparse hair (HP:0008070)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Epicanthus (HP:0000286)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Epicanthus (HP:0000286)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Retrognathia (HP:0000278)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Narrow face (HP:0000275)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Narrow face (HP:0000275)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)
Gene: UBE3B
Phenotype: Long face (HP:0000276)
Associated disease: KAUFMAN OCULOCEREBROFACIAL SYNDROME (OMIM:244450)
Gene: UBE3B
Phenotype: Long face (HP:0000276)
Associated disease: Oculocerebrofacial syndrome, Kaufman type (ORPHA:2707)