TaoMedAI/RareMedData huggingface dataset:
Gene: IER3IP1
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
Gene: IER3IP1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
Gene: IER3IP1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
Gene: IER3IP1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
Gene: IER3IP1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
Gene: IER3IP1
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
Gene: IER3IP1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
Gene: IER3IP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
Gene: IER3IP1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
Gene: IER3IP1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
Gene: IER3IP1
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
Gene: IER3IP1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
Gene: IER3IP1
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
Gene: IER3IP1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
Gene: IER3IP1
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
Gene: IER3IP1
Phenotype: Jaundice (HP:0000952)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
Gene: IER3IP1
Phenotype: Osteopenia (HP:0000938)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
Gene: IER3IP1
Phenotype: Full cheeks (HP:0000293)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
Gene: IER3IP1
Phenotype: High palate (HP:0000218)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
Gene: IER3IP1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
Gene: IER3IP1
Phenotype: Obesity (HP:0001513)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
Gene: IER3IP1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
Gene: IER3IP1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
Gene: IER3IP1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
Gene: IER3IP1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
Gene: IER3IP1
Phenotype: Ptosis (HP:0000508)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
Gene: IER3IP1
Phenotype: Moderate albuminuria (HP:0012594)
Associated disease: MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME (OMIM:614231)
Gene: NAA20
Phenotype: Poor speech (HP:0002465)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Hypotonia (HP:0001252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Scoliosis (HP:0002650)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Poor suck (HP:0002033)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Deep philtrum (HP:0002002)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Gait ataxia (HP:0002066)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Impulsivity (HP:0100710)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Poor coordination (HP:0002370)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Neonatal onset (HP:0003623)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Drooling (HP:0002307)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Antenatal onset (HP:0030674)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Irritability (HP:0000737)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Autism (HP:0000717)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Osteopenia (HP:0000938)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Epicanthus (HP:0000286)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Impaired mastication (HP:0005216)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Low-set ears (HP:0000369)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Narrow forehead (HP:0000341)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Small forehead (HP:0000350)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Persistent head lag (HP:0032988)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: NAA20
Phenotype: Pes planus (HP:0001763)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Gene: SAR1B
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: CHYLOMICRON RETENTION DISEASE (OMIM:246700)
Gene: SAR1B
Phenotype: Areflexia (HP:0001284)
Associated disease: CRD; Chylomicron retention disease; Anderson disease; CMRD (ORPHA:71)
Gene: SAR1B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CHYLOMICRON RETENTION DISEASE (OMIM:246700)
Gene: SAR1B
Phenotype: Steatorrhea (HP:0002570)
Associated disease: CHYLOMICRON RETENTION DISEASE (OMIM:246700)
Gene: SAR1B
Phenotype: Steatorrhea (HP:0002570)
Associated disease: CRD; Chylomicron retention disease; Anderson disease; CMRD (ORPHA:71)
Gene: SAR1B
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: CRD; Chylomicron retention disease; Anderson disease; CMRD (ORPHA:71)
Gene: SAR1B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHYLOMICRON RETENTION DISEASE (OMIM:246700)
Gene: SAR1B
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: CHYLOMICRON RETENTION DISEASE (OMIM:246700)
Gene: SAR1B
Phenotype: Fat malabsorption (HP:0002630)
Associated disease: CRD; Chylomicron retention disease; Anderson disease; CMRD (ORPHA:71)
Gene: SAR1B
Phenotype: Hypotriglyceridemia (HP:0012153)
Associated disease: CHYLOMICRON RETENTION DISEASE (OMIM:246700)
Gene: SAR1B
Phenotype: Diarrhea (HP:0002014)
Associated disease: CRD; Chylomicron retention disease; Anderson disease; CMRD (ORPHA:71)
Gene: SAR1B
Phenotype: Diarrhea (HP:0002014)
Associated disease: CHYLOMICRON RETENTION DISEASE (OMIM:246700)
Gene: SAR1B
Phenotype: Vomiting (HP:0002013)
Associated disease: CRD; Chylomicron retention disease; Anderson disease; CMRD (ORPHA:71)
Gene: SAR1B
Phenotype: Vomiting (HP:0002013)
Associated disease: CHYLOMICRON RETENTION DISEASE (OMIM:246700)
Gene: SAR1B
Phenotype: Abnormality of vitamin metabolism (HP:0100508)
Associated disease: CRD; Chylomicron retention disease; Anderson disease; CMRD (ORPHA:71)
Gene: SAR1B
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: CRD; Chylomicron retention disease; Anderson disease; CMRD (ORPHA:71)
Gene: SAR1B
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: CRD; Chylomicron retention disease; Anderson disease; CMRD (ORPHA:71)
Gene: SAR1B
Phenotype: Infantile onset (HP:0003593)
Associated disease: CHYLOMICRON RETENTION DISEASE (OMIM:246700)
Gene: SAR1B
Phenotype: Decreased LDL cholesterol concentration (HP:0003563)
Associated disease: CHYLOMICRON RETENTION DISEASE (OMIM:246700)
Gene: SAR1B
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: CRD; Chylomicron retention disease; Anderson disease; CMRD (ORPHA:71)
Gene: SAR1B
Phenotype: Accumulation of lipid droplets in small-bowel enterocytes (HP:0034787)
Associated disease: CHYLOMICRON RETENTION DISEASE (OMIM:246700)
Gene: SAR1B
Phenotype: Acanthocytosis (HP:0001927)
Associated disease: CRD; Chylomicron retention disease; Anderson disease; CMRD (ORPHA:71)
Gene: SAR1B
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: CHYLOMICRON RETENTION DISEASE (OMIM:246700)
Gene: SAR1B
Phenotype: Malnutrition (HP:0004395)
Associated disease: CHYLOMICRON RETENTION DISEASE (OMIM:246700)
Gene: SAR1B
Phenotype: Myopathy (HP:0003198)
Associated disease: CRD; Chylomicron retention disease; Anderson disease; CMRD (ORPHA:71)
Gene: SAR1B
Phenotype: Hypocholesterolemia (HP:0003146)
Associated disease: CHYLOMICRON RETENTION DISEASE (OMIM:246700)
Gene: SAR1B
Phenotype: Hypocholesterolemia (HP:0003146)
Associated disease: CRD; Chylomicron retention disease; Anderson disease; CMRD (ORPHA:71)
Gene: SAR1B
Phenotype: Abdominal distention (HP:0003270)
Associated disease: CRD; Chylomicron retention disease; Anderson disease; CMRD (ORPHA:71)
Gene: SAR1B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CRD; Chylomicron retention disease; Anderson disease; CMRD (ORPHA:71)
Gene: SAR1B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CHYLOMICRON RETENTION DISEASE (OMIM:246700)
Gene: SAR1B
Phenotype: Growth delay (HP:0001510)
Associated disease: CRD; Chylomicron retention disease; Anderson disease; CMRD (ORPHA:71)
Gene: SAR1B
Phenotype: Growth delay (HP:0001510)
Associated disease: CHYLOMICRON RETENTION DISEASE (OMIM:246700)
Gene: SAR1B
Phenotype: Increased hepatocellular lipid droplets (HP:0006565)
Associated disease: CRD; Chylomicron retention disease; Anderson disease; CMRD (ORPHA:71)
Gene: SAR1B
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CRD; Chylomicron retention disease; Anderson disease; CMRD (ORPHA:71)
Gene: SAR1B
Phenotype: Retinopathy (HP:0000488)
Associated disease: CRD; Chylomicron retention disease; Anderson disease; CMRD (ORPHA:71)
Gene: SAR1B
Phenotype: Visual impairment (HP:0000505)
Associated disease: CRD; Chylomicron retention disease; Anderson disease; CMRD (ORPHA:71)
Gene: RLIM
Phenotype: Brachydactyly (HP:0001156)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Poor speech (HP:0002465)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Excessive shyness (HP:0100962)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Intellectual disability (HP:0001249)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Global developmental delay (HP:0001263)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Spasticity (HP:0001257)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Micropenis (HP:0000054)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Hypospadias (HP:0000047)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Tremor (HP:0001337)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Narrow mouth (HP:0000160)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Dysphagia (HP:0002015)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Broad-based gait (HP:0002136)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Infantile onset (HP:0003593)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Fine hair (HP:0002213)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Blue irides (HP:0000635)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Hypotelorism (HP:0000601)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Broad thumb (HP:0011304)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Short stature (HP:0004322)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Anxiety (HP:0000739)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Autistic behavior (HP:0000729)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Atypical behavior (HP:0000708)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Narrow face (HP:0000275)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Malar flattening (HP:0000272)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Concave nail (HP:0001598)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Microcephaly (HP:0000252)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Growth delay (HP:0001510)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Broad forehead (HP:0000337)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Micrognathia (HP:0000347)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Hypertelorism (HP:0000316)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Small nail (HP:0001792)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Pes planus (HP:0001763)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Prominent nose (HP:0000448)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: RLIM
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: TONNE-KALSCHEUER SYNDROME (OMIM:300978)
Gene: CEP83
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHRONOPHTHISIS 18 (OMIM:615862)
Gene: CEP83
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEPHRONOPHTHISIS 18 (OMIM:615862)
Gene: CEP83
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: NEPHRONOPHTHISIS 18 (OMIM:615862)
Gene: CEP83
Phenotype: Renal tubular atrophy (HP:0000092)
Associated disease: NEPHRONOPHTHISIS 18 (OMIM:615862)
Gene: CEP83
Phenotype: Cholestasis (HP:0001396)
Associated disease: NEPHRONOPHTHISIS 18 (OMIM:615862)
Gene: CEP83
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHRONOPHTHISIS 18 (OMIM:615862)
Gene: CEP83
Phenotype: Thickened glomerular basement membrane (HP:0004722)
Associated disease: NEPHRONOPHTHISIS 18 (OMIM:615862)
Gene: CEP83
Phenotype: Retinitis (HP:0032118)
Associated disease: NEPHRONOPHTHISIS 18 (OMIM:615862)
Gene: CEP83
Phenotype: Tubulointerstitial nephritis (HP:0001970)
Associated disease: NEPHRONOPHTHISIS 18 (OMIM:615862)
Gene: CEP83
Phenotype: Hypertension (HP:0000822)
Associated disease: NEPHRONOPHTHISIS 18 (OMIM:615862)
Gene: CEP83
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: NEPHRONOPHTHISIS 18 (OMIM:615862)
Gene: CEP83
Phenotype: Portal fibrosis (HP:0006580)
Associated disease: NEPHRONOPHTHISIS 18 (OMIM:615862)
Gene: CEP83
Phenotype: Strabismus (HP:0000486)
Associated disease: NEPHRONOPHTHISIS 18 (OMIM:615862)
Gene: IRAK4
Phenotype: Transiently decreased total neutrophil count (HP:0410255)
Associated disease: IMMUNODEFICIENCY 67 (OMIM:607676)
Gene: IRAK4
Phenotype: Meningitis (HP:0001287)
Associated disease: IMMUNODEFICIENCY 67 (OMIM:607676)
Gene: IRAK4
Phenotype: Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine (HP:0410300)
Associated disease: IMMUNODEFICIENCY 67 (OMIM:607676)
Gene: IRAK4
Phenotype: Abnormal B cell count (HP:0010975)
Associated disease: IMMUNODEFICIENCY 67 (OMIM:607676)
Gene: IRAK4
Phenotype: Recurrent staphylococcal infections (HP:0007499)
Associated disease: IMMUNODEFICIENCY 67 (OMIM:607676)
Gene: IRAK4
Phenotype: Recurrent staphylococcal infections (HP:0007499)
Associated disease: Transient predisposition to invasive pyogenic bacterial infection (ORPHA:70592)
Gene: IRAK4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 67 (OMIM:607676)
Gene: IRAK4
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: Transient predisposition to invasive pyogenic bacterial infection (ORPHA:70592)
Gene: IRAK4
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 67 (OMIM:607676)
Gene: IRAK4
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Transient predisposition to invasive pyogenic bacterial infection (ORPHA:70592)
Gene: IRAK4
Phenotype: Liver abscess (HP:0100523)
Associated disease: IMMUNODEFICIENCY 67 (OMIM:607676)
Gene: IRAK4
Phenotype: Abnormal T cell count (HP:0011839)
Associated disease: IMMUNODEFICIENCY 67 (OMIM:607676)
Gene: IRAK4
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 67 (OMIM:607676)
Gene: IRAK4
Phenotype: Recurrent streptococcal infections (HP:0020096)
Associated disease: IMMUNODEFICIENCY 67 (OMIM:607676)
Gene: IRAK4
Phenotype: Fever (HP:0001945)
Associated disease: Transient predisposition to invasive pyogenic bacterial infection (ORPHA:70592)
Gene: IRAK4
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY 67 (OMIM:607676)
Gene: IRAK4
Phenotype: Septic arthritis (HP:0003095)
Associated disease: IMMUNODEFICIENCY 67 (OMIM:607676)
Gene: IRAK4
Phenotype: Abnormal total natural killer cell count (HP:0040089)
Associated disease: IMMUNODEFICIENCY 67 (OMIM:607676)
Gene: IRAK4
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: IMMUNODEFICIENCY 67 (OMIM:607676)
Gene: IRAK4
Phenotype: Recurrent streptococcus pneumoniae infections (HP:0005366)
Associated disease: Transient predisposition to invasive pyogenic bacterial infection (ORPHA:70592)
Gene: IRAK4
Phenotype: Recurrent bacterial skin infections (HP:0005406)
Associated disease: Transient predisposition to invasive pyogenic bacterial infection (ORPHA:70592)