TaoMedAI/RareMedData huggingface dataset:
Gene: RNU7-1
Phenotype: Ascites (HP:0001541)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Enchondroma (HP:0030038)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNU7-1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNU7-1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNU7-1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNU7-1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNU7-1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNU7-1
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNU7-1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNU7-1
Phenotype: Panniculitis (HP:0012490)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNU7-1
Phenotype: Acute pancreatitis (HP:0001735)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Pericarditis (HP:0001701)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNU7-1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNU7-1
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNU7-1
Phenotype: Weight loss (HP:0001824)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Ptosis (HP:0000508)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNU7-1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNU7-1
Phenotype: Increased circulating interferon-gamma concentration (HP:0030356)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNU7-1
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU7-1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Gene: RNU4ATAC
Phenotype: Large hands (HP:0001176)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Large hands (HP:0001176)
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: Brachydactyly (HP:0001156)
Associated disease: Lowry-Wood syndrome; Epiphyseal dysplasia-microcephaly-nystagmus syndrome (ORPHA:1824)
Gene: RNU4ATAC
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Brachydactyly (HP:0001156)
Associated disease: LOWRY-WOOD SYNDROME (OMIM:226960)
Gene: RNU4ATAC
Phenotype: Brachydactyly (HP:0001156)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Brachydactyly (HP:0001156)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Brachydactyly (HP:0001156)
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 finger morphology (HP:0001167)
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: Abnormality of the upper urinary tract (HP:0010935)
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: Hippocampal atrophy (HP:0410170)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Abnormal tragus morphology (HP:0009912)
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: Microtia (HP:0008551)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNU4ATAC
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNU4ATAC
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Hypertonia (HP:0001276)
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: Agenesis of corpus callosum (HP:0001274)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: LOWRY-WOOD SYNDROME (OMIM:226960)
Gene: RNU4ATAC
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Seizure (HP:0001250)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Seizure (HP:0001250)
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: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Hypotonia (HP:0001252)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lowry-Wood syndrome; Epiphyseal dysplasia-microcephaly-nystagmus syndrome (ORPHA:1824)
Gene: RNU4ATAC
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Intellectual disability (HP:0001249)
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: Global developmental delay (HP:0001263)
Associated disease: LOWRY-WOOD SYNDROME (OMIM:226960)
Gene: RNU4ATAC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Global developmental delay (HP:0001263)
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: Spasticity (HP:0001257)
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: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Lowry-Wood syndrome; Epiphyseal dysplasia-microcephaly-nystagmus syndrome (ORPHA:1824)
Gene: RNU4ATAC
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Abnormal cortical gyration (HP:0002536)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Bowed humerus (HP:0003865)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNU4ATAC
Phenotype: Stillbirth (HP:0003826)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Interhemispheric cyst (HP:0032327)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Death in childhood (HP:0003819)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Broad femoral head (HP:0008804)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Abnormality of the kidney (HP:0000077)
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: Abnormality of the urinary system (HP:0000079)
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: Hydroureter (HP:0000072)
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: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: LOWRY-WOOD SYNDROME (OMIM:226960)
Gene: RNU4ATAC
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Micropenis (HP:0000054)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Lowry-Wood syndrome; Epiphyseal dysplasia-microcephaly-nystagmus syndrome (ORPHA:1824)
Gene: RNU4ATAC
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNU4ATAC
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Cryptorchidism (HP:0000028)
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: Postnatal growth retardation (HP:0008897)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Delayed proximal femoral epiphyseal ossification (HP:0008828)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Multiple joint dislocation (HP:0012095)
Associated disease: LOWRY-WOOD SYNDROME (OMIM:226960)
Gene: RNU4ATAC
Phenotype: Large iliac wing (HP:0008818)
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: Delayed epiphyseal ossification (HP:0002663)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Specific learning disability (HP:0001328)
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: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: Lowry-Wood syndrome; Epiphyseal dysplasia-microcephaly-nystagmus syndrome (ORPHA:1824)
Gene: RNU4ATAC
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNU4ATAC
Phenotype: Multiple epiphyseal dysplasia (HP:0002654)
Associated disease: LOWRY-WOOD SYNDROME (OMIM:226960)
Gene: RNU4ATAC
Phenotype: Spondyloepiphyseal dysplasia (HP:0002655)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Spondyloepiphyseal dysplasia (HP:0002655)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LOWRY-WOOD SYNDROME (OMIM:226960)
Gene: RNU4ATAC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)
Gene: RNU4ATAC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNU4ATAC
Phenotype: Pachygyria (HP:0001302)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNU4ATAC
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNU4ATAC
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Bifid uvula (HP:0000193)
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: Submucous cleft hard palate (HP:0000176)
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 palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNU4ATAC
Phenotype: Cleft palate (HP:0000175)
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: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
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: Polycystic kidney dysplasia (HP:0000113)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Hydronephrosis (HP:0000126)
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: Renal cyst (HP:0000107)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Lowry-Wood syndrome; Epiphyseal dysplasia-microcephaly-nystagmus syndrome (ORPHA:1824)
Gene: RNU4ATAC
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Gene: RNU4ATAC
Phenotype: Delayed skeletal maturation (HP:0002750)
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: Rickets (HP:0002748)
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: Osteomalacia (HP:0002749)
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: Lymphadenopathy (HP:0002716)
Associated disease: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; Roifman syndrome (ORPHA:353298)
Gene: RNU4ATAC
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: ROIFMAN SYNDROME (OMIM:616651)