TaoMedAI/RareMedData huggingface dataset:
Gene: RNU4ATAC
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Cleft vertebral arch (HP:0004616)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Biconvex vertebral bodies (HP:0004625)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Biconvex vertebral bodies (HP:0004625)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Abnormal circulating calcium-phosphate regulating hormone concentration (HP:0100530)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Dyspnea (HP:0002094)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: LOWRY-WOOD SYNDROME (OMIM:226960)
Gene: RNU4ATAC
Phenotype: Rigidity (HP:0002063)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNU4ATAC
Phenotype: Bifid femur (HP:0010443)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Abnormally ossified vertebrae (HP:0100569)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Lowry-Wood syndrome; Epiphyseal dysplasia-microcephaly-nystagmus syndrome (ORPHA:1824)
Gene: RNU4ATAC
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Status epilepticus (HP:0002133)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Short digit (HP:0011927)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Bifid first metacarpal (HP:0009616)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Disproportionate short stature (HP:0003498)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Small epiphyses (HP:0010585)
Associated disease: LOWRY-WOOD SYNDROME (OMIM:226960)
Gene: RNU4ATAC
Phenotype: Irregular epiphyses (HP:0010582)
Associated disease: LOWRY-WOOD SYNDROME (OMIM:226960)
Gene: RNU4ATAC
Phenotype: Irregular epiphyses (HP:0010582)
Associated disease: Lowry-Wood syndrome; Epiphyseal dysplasia-microcephaly-nystagmus syndrome (ORPHA:1824)
Gene: RNU4ATAC
Phenotype: Infantile onset (HP:0003593)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Fine hair (HP:0002213)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Severe short stature (HP:0003510)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Agenesis of cerebellar vermis (HP:0002335)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNU4ATAC
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Abnormality of nail color (HP:0100643)
Associated disease: Lowry-Wood syndrome; Epiphyseal dysplasia-microcephaly-nystagmus syndrome (ORPHA:1824)
Gene: RNU4ATAC
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Abnormal distal phalanx morphology of finger (HP:0009832)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Broad distal phalanx of finger (HP:0009836)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Short thumb (HP:0009778)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNU4ATAC
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNU4ATAC
Phenotype: Loss of consciousness (HP:0007185)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Cerebral hypoplasia (HP:0006872)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNU4ATAC
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: LOWRY-WOOD SYNDROME (OMIM:226960)
Gene: RNU4ATAC
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Short palm (HP:0004279)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Nystagmus (HP:0000639)
Associated disease: Lowry-Wood syndrome; Epiphyseal dysplasia-microcephaly-nystagmus syndrome (ORPHA:1824)
Gene: RNU4ATAC
Phenotype: Nystagmus (HP:0000639)
Associated disease: LOWRY-WOOD SYNDROME (OMIM:226960)
Gene: RNU4ATAC
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNU4ATAC
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNU4ATAC
Phenotype: Recurrent fever (HP:0001954)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNU4ATAC
Phenotype: Short metacarpal (HP:0010049)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Short metacarpal (HP:0010049)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Nyctalopia (HP:0000662)
Associated disease: LOWRY-WOOD SYNDROME (OMIM:226960)
Gene: RNU4ATAC
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNU4ATAC
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Short stature (HP:0004322)
Associated disease: Lowry-Wood syndrome; Epiphyseal dysplasia-microcephaly-nystagmus syndrome (ORPHA:1824)
Gene: RNU4ATAC
Phenotype: Short stature (HP:0004322)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Short stature (HP:0004322)
Associated disease: LOWRY-WOOD SYNDROME (OMIM:226960)
Gene: RNU4ATAC
Phenotype: Short stature (HP:0004322)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Aplasia/hypoplasia of the femur (HP:0005613)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Antenatal onset (HP:0030674)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: Lowry-Wood syndrome; Epiphyseal dysplasia-microcephaly-nystagmus syndrome (ORPHA:1824)
Gene: RNU4ATAC
Phenotype: Enlarged metaphyses (HP:0003051)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNU4ATAC
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNU4ATAC
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Shoulder flexion contracture (HP:0003044)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: Lowry-Wood syndrome; Epiphyseal dysplasia-microcephaly-nystagmus syndrome (ORPHA:1824)
Gene: RNU4ATAC
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Loss of eyelashes (HP:0011457)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Platyspondyly (HP:0000926)
Associated disease: Lowry-Wood syndrome; Epiphyseal dysplasia-microcephaly-nystagmus syndrome (ORPHA:1824)
Gene: RNU4ATAC
Phenotype: Platyspondyly (HP:0000926)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Squared iliac bones (HP:0003177)
Associated disease: LOWRY-WOOD SYNDROME (OMIM:226960)
Gene: RNU4ATAC
Phenotype: Abnormal pubic bone morphology (HP:0003172)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Long nose (HP:0003189)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Shallow acetabular fossae (HP:0003182)
Associated disease: LOWRY-WOOD SYNDROME (OMIM:226960)
Gene: RNU4ATAC
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Short humerus (HP:0005792)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNU4ATAC
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Long clavicles (HP:0000890)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Noncompaction cardiomyopathy (HP:0012817)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Noncompaction cardiomyopathy (HP:0012817)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Short femur (HP:0003097)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Hypertension (HP:0000822)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNU4ATAC
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNU4ATAC
Phenotype: Microlissencephaly (HP:0045028)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Hip contracture (HP:0003273)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Hip contracture (HP:0003273)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Hip contracture (HP:0003273)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Thin eyebrow (HP:0045074)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)
Gene: RNU4ATAC
Phenotype: Preaxial polydactyly (HP:0100258)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Muscular ventricular septal defect (HP:0011623)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Dry skin (HP:0000958)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Microcephalic osteodysplastic primordial dwarfism types I and III; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome; MOPD types I and III (ORPHA:2636)