TaoMedAI/RareMedData huggingface dataset:
Gene: NSUN2
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Abnormal female external genitalia morphology (HP:0000055)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Hypospadias (HP:0000047)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Shawl scrotum (HP:0000049)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Neoplasm (HP:0002664)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Lymphoma (HP:0002665)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Wide mouth (HP:0000154)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Anal stenosis (HP:0002025)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Malabsorption (HP:0002024)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Constipation (HP:0002019)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: 4-5 toe syndactyly (HP:0004692)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Vomiting (HP:0002013)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Asthma (HP:0002099)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Spastic gait (HP:0002064)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Broad-based gait (HP:0002136)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Aplasia/Hypoplasia of the thumb (HP:0009601)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Abnormality of thumb phalanx (HP:0009602)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Fine hair (HP:0002213)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Abnormal antihelix morphology (HP:0009738)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Small hand (HP:0200055)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Tube feeding (HP:0033454)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Photophobia (HP:0000613)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Hypotelorism (HP:0000601)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Anemia (HP:0001903)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Dental crowding (HP:0000678)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Broad thumb (HP:0011304)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Synophrys (HP:0000664)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Short stature (HP:0004322)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Short stature (HP:0004322)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Short attention span (HP:0000736)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Autism (HP:0000717)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Childhood onset (HP:0011463)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Inverted nipples (HP:0003186)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Auditory hypersensitivity (HP:5200060)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Dry skin (HP:0000958)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Sparse hair (HP:0008070)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Epicanthus (HP:0000286)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Narrow face (HP:0000275)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Narrow face (HP:0000275)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Long face (HP:0000276)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: High palate (HP:0000218)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Short chin (HP:0000331)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Short philtrum (HP:0000322)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Strabismus (HP:0000486)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Megalocornea (HP:0000485)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Short foot (HP:0001773)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Prominent nose (HP:0000448)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Protruding ear (HP:0000411)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Pes cavus (HP:0001761)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Cataract (HP:0000518)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Sandal gap (HP:0001852)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Telecanthus (HP:0000506)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Telecanthus (HP:0000506)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Ptosis (HP:0000508)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Gene: NSUN2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Abnormality of neutrophils (HP:0001874)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NSUN2
Phenotype: Myopia (HP:0000545)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: NCAPG2
Phenotype: Trichiasis (HP:0001128)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Hypertonia (HP:0001276)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Hypotonia (HP:0001252)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Absent speech (HP:0001344)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Scoliosis (HP:0002650)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Delayed closure of the anterior fontanelle (HP:0001476)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Renal cyst (HP:0000107)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Dysphagia (HP:0002015)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Tethered cord (HP:0002144)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Sleep apnea (HP:0010535)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Congenital onset (HP:0003577)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Nystagmus (HP:0000639)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Anemia (HP:0001903)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Peters anomaly (HP:0000659)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Short stature (HP:0004322)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Short nose (HP:0003196)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Joint contracture (HP:0034392)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Patent ductus arteriosus after premature birth (HP:0011649)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Sacral dimple (HP:0000960)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Bilateral superior vena cava with no bridging vein (HP:0011668)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Clinodactyly (HP:0030084)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Microcephaly (HP:0000252)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Triangular mouth (HP:0000207)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Colpocephaly (HP:0030048)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Micrognathia (HP:0000347)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Strabismus (HP:0000486)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Visual impairment (HP:0000505)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Glaucoma (HP:0000501)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Epiblepharon (HP:0011225)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Buphthalmos (HP:0000557)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Corneal scarring (HP:0000559)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: NCAPG2
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Gene: RNF43
Phenotype: Serrated intestinal polyps (HP:0032222)
Associated disease: SESSILE SERRATED POLYPOSIS CANCER SYNDROME (OMIM:617108)
Gene: RNF43
Phenotype: Gastric diverticulum (HP:0100808)
Associated disease: Hyperplastic polyposis syndrome; Serrated polyposis syndrome (ORPHA:157798)
Gene: RNF43
Phenotype: Neoplasm of the large intestine (HP:0100834)
Associated disease: Hyperplastic polyposis syndrome; Serrated polyposis syndrome (ORPHA:157798)
Gene: RNF43
Phenotype: Intussusception (HP:0002576)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: RNF43
Phenotype: Hematochezia (HP:0002573)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: RNF43
Phenotype: Clubbing (HP:0001217)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: RNF43
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: RNF43
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: RNF43
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SESSILE SERRATED POLYPOSIS CANCER SYNDROME (OMIM:617108)
Gene: RNF43
Phenotype: Hodgkin lymphoma (HP:0012189)
Associated disease: Hyperplastic polyposis syndrome; Serrated polyposis syndrome (ORPHA:157798)
Gene: RNF43
Phenotype: Prostate cancer (HP:0012125)
Associated disease: Hyperplastic polyposis syndrome; Serrated polyposis syndrome (ORPHA:157798)
Gene: RNF43
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: RNF43
Phenotype: Abdominal pain (HP:0002027)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: RNF43
Phenotype: Diarrhea (HP:0002014)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: RNF43
Phenotype: Biliary tract neoplasm (HP:0100574)
Associated disease: Hyperplastic polyposis syndrome; Serrated polyposis syndrome (ORPHA:157798)