TaoMedAI/RareMedData huggingface dataset:
Gene: POLR3A
Phenotype: Micrognathia (HP:0000347)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Short philtrum (HP:0000322)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Triangular face (HP:0000325)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Triangular face (HP:0000325)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Genu varum (HP:0002970)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Pointed chin (HP:0000307)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Pointed chin (HP:0000307)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Autonomic bladder dysfunction (HP:0005341)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Deeply set eye (HP:0000490)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Small nail (HP:0001792)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Anteverted nares (HP:0000463)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Narrow nose (HP:0000460)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Long neck (HP:0000472)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Short neck (HP:0000470)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Wide penis (HP:0030265)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Cataract (HP:0000518)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Cataract (HP:0000518)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Vertical supranuclear gaze palsy (HP:0000511)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3A
Phenotype: Vertical supranuclear gaze palsy (HP:0000511)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Proptosis (HP:0000520)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Long foot (HP:0001833)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Abnormality of the ear (HP:0000598)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Blue sclerae (HP:0000592)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Broad eyebrow (HP:0011229)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Prominent forehead (HP:0011220)
Associated disease: WIEDEMANN-RAUTENSTRAUCH SYNDROME (OMIM:264090)
Gene: POLR3A
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3A
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3A
Phenotype: Myopia (HP:0000545)
Associated disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Gene: POLR3A
Phenotype: Myopia (HP:0000545)
Associated disease: Neonatal progeroid syndrome; Wiedemann-Rautenstrauch syndrome (ORPHA:3455)
Gene: POLR3A
Phenotype: Myopia (HP:0000545)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: KPTN
Phenotype: Motor delay (HP:0001270)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Seizure (HP:0001250)
Associated disease: Macrocephaly-developmental delay syndrome (ORPHA:397612)
Gene: KPTN
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Hypotonia (HP:0001252)
Associated disease: Macrocephaly-developmental delay syndrome (ORPHA:397612)
Gene: KPTN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Macrocephaly-developmental delay syndrome (ORPHA:397612)
Gene: KPTN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Macrocephaly-developmental delay syndrome (ORPHA:397612)
Gene: KPTN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Macrocephaly-developmental delay syndrome (ORPHA:397612)
Gene: KPTN
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Macrocephaly-developmental delay syndrome (ORPHA:397612)
Gene: KPTN
Phenotype: Palpebral edema (HP:0100540)
Associated disease: Macrocephaly-developmental delay syndrome (ORPHA:397612)
Gene: KPTN
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Macrocephaly-developmental delay syndrome (ORPHA:397612)
Gene: KPTN
Phenotype: EEG with generalized slow activity (HP:0010845)
Associated disease: Macrocephaly-developmental delay syndrome (ORPHA:397612)
Gene: KPTN
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Macrocephaly-developmental delay syndrome (ORPHA:397612)
Gene: KPTN
Phenotype: Abnormal speech discrimination (HP:0001963)
Associated disease: Macrocephaly-developmental delay syndrome (ORPHA:397612)
Gene: KPTN
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: Macrocephaly-developmental delay syndrome (ORPHA:397612)
Gene: KPTN
Phenotype: Anxiety (HP:0000739)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Anxiety (HP:0000739)
Associated disease: Macrocephaly-developmental delay syndrome (ORPHA:397612)
Gene: KPTN
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Macrocephaly-developmental delay syndrome (ORPHA:397612)
Gene: KPTN
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Macrocephaly-developmental delay syndrome (ORPHA:397612)
Gene: KPTN
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Macrocephaly-developmental delay syndrome (ORPHA:397612)
Gene: KPTN
Phenotype: Childhood onset (HP:0011463)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: Macrocephaly-developmental delay syndrome (ORPHA:397612)
Gene: KPTN
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: Macrocephaly-developmental delay syndrome (ORPHA:397612)
Gene: KPTN
Phenotype: Retrognathia (HP:0000278)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Macrocephaly-developmental delay syndrome (ORPHA:397612)
Gene: KPTN
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: High palate (HP:0000218)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: High palate (HP:0000218)
Associated disease: Macrocephaly-developmental delay syndrome (ORPHA:397612)
Gene: KPTN
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: Macrocephaly-developmental delay syndrome (ORPHA:397612)
Gene: KPTN
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Microretrognathia (HP:0000308)
Associated disease: Macrocephaly-developmental delay syndrome (ORPHA:397612)
Gene: KPTN
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Macrocephaly-developmental delay syndrome (ORPHA:397612)
Gene: KPTN
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Macrocephaly-developmental delay syndrome (ORPHA:397612)
Gene: KPTN
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Splenomegaly (HP:0001744)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Macrocephaly-developmental delay syndrome (ORPHA:397612)
Gene: KPTN
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
Gene: KPTN
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Macrocephaly-developmental delay syndrome (ORPHA:397612)
Gene: SLC7A9
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: CYSTINURIA (OMIM:220100)
Gene: SLC7A9
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: CYSTINURIA (OMIM:220100)
Gene: SLC7A9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CYSTINURIA (OMIM:220100)
Gene: SLC7A9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CYSTINURIA (OMIM:220100)
Gene: SLC7A9
Phenotype: Ornithinuria (HP:0003532)
Associated disease: CYSTINURIA (OMIM:220100)
Gene: SLC7A9
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: CYSTINURIA (OMIM:220100)
Gene: SLC7A9
Phenotype: Cystinuria (HP:0003131)
Associated disease: CYSTINURIA (OMIM:220100)
Gene: SLC7A9
Phenotype: Hyperlysinuria (HP:0003297)
Associated disease: CYSTINURIA (OMIM:220100)
Gene: SLC7A9
Phenotype: Argininuria (HP:0003268)
Associated disease: CYSTINURIA (OMIM:220100)
Gene: IL1RAPL1
Phenotype: Uplifted earlobe (HP:0009909)
Associated disease: MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
Gene: IL1RAPL1
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
Gene: IL1RAPL1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
Gene: IL1RAPL1
Phenotype: Macroorchidism (HP:0000053)
Associated disease: MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
Gene: IL1RAPL1
Phenotype: Open mouth (HP:0000194)
Associated disease: MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
Gene: IL1RAPL1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
Gene: IL1RAPL1
Phenotype: Impulsivity (HP:0100710)
Associated disease: MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
Gene: IL1RAPL1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
Gene: IL1RAPL1
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
Gene: IL1RAPL1
Phenotype: Dental crowding (HP:0000678)
Associated disease: MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
Gene: IL1RAPL1
Phenotype: Synophrys (HP:0000664)
Associated disease: MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
Gene: IL1RAPL1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
Gene: IL1RAPL1
Phenotype: Autism (HP:0000717)
Associated disease: MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
Gene: IL1RAPL1
Phenotype: Short nose (HP:0003196)
Associated disease: MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
Gene: IL1RAPL1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
Gene: IL1RAPL1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
Gene: IL1RAPL1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
Gene: IL1RAPL1
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
Gene: IL1RAPL1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
Gene: PLAAT3
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Areflexia (HP:0001284)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Scoliosis (HP:0002650)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Acral overgrowth (HP:0033794)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Myalgia (HP:0003326)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Spastic gait (HP:0002064)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Migraine (HP:0002076)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Infantile onset (HP:0003593)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Hirsutism (HP:0001007)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Short stature (HP:0004322)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Gynecomastia (HP:0000771)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Childhood onset (HP:0011463)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Young adult onset (HP:0011462)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Flat forehead (HP:0004425)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Precocious puberty (HP:0000826)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Hypertension (HP:0000822)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Arthralgia (HP:0002829)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Kyphosis (HP:0002808)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Genu valgum (HP:0002857)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)
Gene: PLAAT3
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 (OMIM:620683)