TaoMedAI/RareMedData huggingface dataset:
Gene: HNRNPA2B1
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2 (OMIM:615422)
Gene: HNRNPA2B1
Phenotype: Myositis (HP:0100614)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2 (OMIM:615422)
Gene: HNRNPA2B1
Phenotype: Mutism (HP:0002300)
Associated disease: IBMPFD; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; Pagetoid neuroskeletal syndrome; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis (ORPHA:52430)
Gene: HNRNPA2B1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2 (OMIM:620460)
Gene: HNRNPA2B1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2 (OMIM:620460)
Gene: HNRNPA2B1
Phenotype: Abnormal long bone morphology (HP:0011314)
Associated disease: IBMPFD; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; Pagetoid neuroskeletal syndrome; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis (ORPHA:52430)
Gene: HNRNPA2B1
Phenotype: Short stature (HP:0004322)
Associated disease: IBMPFD; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; Pagetoid neuroskeletal syndrome; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis (ORPHA:52430)
Gene: HNRNPA2B1
Phenotype: Paget disease of bone (HP:0034159)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2 (OMIM:615422)
Gene: HNRNPA2B1
Phenotype: Weakness of muscles of respiration (HP:0004347)
Associated disease: IBMPFD; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; Pagetoid neuroskeletal syndrome; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis (ORPHA:52430)
Gene: HNRNPA2B1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2 (OMIM:615422)
Gene: HNRNPA2B1
Phenotype: Childhood onset (HP:0011463)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2 (OMIM:620460)
Gene: HNRNPA2B1
Phenotype: Young adult onset (HP:0011462)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2 (OMIM:620460)
Gene: HNRNPA2B1
Phenotype: Myopathy (HP:0003198)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2 (OMIM:615422)
Gene: HNRNPA2B1
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: IBMPFD; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; Pagetoid neuroskeletal syndrome; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis (ORPHA:52430)
Gene: HNRNPA2B1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2 (OMIM:615422)
Gene: HNRNPA2B1
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: IBMPFD; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; Pagetoid neuroskeletal syndrome; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis (ORPHA:52430)
Gene: HNRNPA2B1
Phenotype: Calvarial hyperostosis (HP:0004490)
Associated disease: IBMPFD; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; Pagetoid neuroskeletal syndrome; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis (ORPHA:52430)
Gene: HNRNPA2B1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: IBMPFD; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; Pagetoid neuroskeletal syndrome; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis (ORPHA:52430)
Gene: HNRNPA2B1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2 (OMIM:615422)
Gene: HNRNPA2B1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2 (OMIM:615422)
Gene: HNRNPA2B1
Phenotype: Hip pain (HP:0030838)
Associated disease: IBMPFD; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; Pagetoid neuroskeletal syndrome; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis (ORPHA:52430)
Gene: HNRNPA2B1
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2 (OMIM:615422)
Gene: HNRNPA2B1
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: IBMPFD; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; Pagetoid neuroskeletal syndrome; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis (ORPHA:52430)
Gene: HNRNPA2B1
Phenotype: Dysphonia (HP:0001618)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2 (OMIM:620460)
Gene: HNRNPA2B1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: IBMPFD; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; Pagetoid neuroskeletal syndrome; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis (ORPHA:52430)
Gene: HNRNPA2B1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: IBMPFD; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; Pagetoid neuroskeletal syndrome; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis (ORPHA:52430)
Gene: HNRNPA2B1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: IBMPFD; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; Pagetoid neuroskeletal syndrome; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis (ORPHA:52430)
Gene: HNRNPA2B1
Phenotype: Cataract (HP:0000518)
Associated disease: IBMPFD; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; Pagetoid neuroskeletal syndrome; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis (ORPHA:52430)
Gene: HNRNPA2B1
Phenotype: Ptosis (HP:0000508)
Associated disease: OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2 (OMIM:620460)
Gene: HNRNPA2B1
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: IBMPFD; Inclusion body myopathy with Paget disease of bone and frontotemporal dementia; Pagetoid neuroskeletal syndrome; Limb-girdle muscular dystrophy with Paget disease of bone; Pagetoid amyotrophic lateral sclerosis (ORPHA:52430)
Gene: HNRNPC
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Hypertonia (HP:0001276)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Absent speech (HP:0001344)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Hypotelorism (HP:0000601)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Diminished ability to concentrate (HP:0031987)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Motor tics (HP:0100034)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Happy demeanor (HP:0040082)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Brachycephaly (HP:0000248)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Hypertelorism (HP:0000316)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Round face (HP:0000311)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Typical absence seizure (HP:0011147)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Deeply set eye (HP:0000490)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPC
Phenotype: Prominent nose (HP:0000448)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74 (OMIM:620688)
Gene: HNRNPH1
Phenotype: Hand clenching (HP:0001188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Congenital posterior urethral valve (HP:0010957)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Hypospadias (HP:0000047)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Small foramen magnum (HP:0002677)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Coxa valga (HP:0002673)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Talipes valgus (HP:0004684)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Tethered cord (HP:0002144)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Clubbing of toes (HP:0100760)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Slender long bones with narrow diaphyses (HP:0004993)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Open bite (HP:0010807)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Dental crowding (HP:0000678)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Penile hypospadias (HP:0003244)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Osteopenia (HP:0000938)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Retrognathia (HP:0000278)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Long face (HP:0000276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Malar flattening (HP:0000272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Colpocephaly (HP:0030048)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Small earlobe (HP:0000385)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: High forehead (HP:0000348)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS (OMIM:620083)
Gene: HNRNPH2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Hypertonia (HP:0001276)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Ataxia (HP:0001251)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Scoliosis (HP:0002650)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)
Gene: HNRNPH2
Phenotype: Wide mouth (HP:0000154)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE (OMIM:300986)