TaoMedAI/RareMedData huggingface dataset:
Gene: AFF4
Phenotype: Long philtrum (HP:0000343)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Long philtrum (HP:0000343)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Micrognathia (HP:0000347)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Round face (HP:0000311)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Round face (HP:0000311)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Strabismus (HP:0000486)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Splenomegaly (HP:0001744)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Cataract (HP:0000518)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Cataract (HP:0000518)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Long eyelashes (HP:0000527)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Proptosis (HP:0000520)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Proptosis (HP:0000520)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Ptosis (HP:0000508)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Vertical forehead creases (HP:0011221)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: CHOPS SYNDROME (OMIM:616368)
Gene: AFF4
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: AFF4
Phenotype: Myopia (HP:0000545)
Associated disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Gene: INVS
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: INVS
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHRONOPHTHISIS 2 (OMIM:602088)
Gene: INVS
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: INVS
Phenotype: Ataxia (HP:0001251)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: INVS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: INVS
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: INVS
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: NEPHRONOPHTHISIS 2 (OMIM:602088)
Gene: INVS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: INVS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHRONOPHTHISIS 2 (OMIM:602088)
Gene: INVS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: INVS
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: INVS
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: INVS
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: INVS
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: NEPHRONOPHTHISIS 2 (OMIM:602088)
Gene: INVS
Phenotype: Hyperkalemic metabolic acidosis (HP:0005976)
Associated disease: NEPHRONOPHTHISIS 2 (OMIM:602088)
Gene: INVS
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: NEPHRONOPHTHISIS 2 (OMIM:602088)
Gene: INVS
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: NEPHRONOPHTHISIS 2 (OMIM:602088)
Gene: INVS
Phenotype: Pulmonic regurgitation (HP:0010444)
Associated disease: NEPHRONOPHTHISIS 2 (OMIM:602088)
Gene: INVS
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: NEPHRONOPHTHISIS 2 (OMIM:602088)
Gene: INVS
Phenotype: Chronic tubulointerstitial nephritis (HP:0004743)
Associated disease: NEPHRONOPHTHISIS 2 (OMIM:602088)
Gene: INVS
Phenotype: Renal cortical microcysts (HP:0004734)
Associated disease: NEPHRONOPHTHISIS 2 (OMIM:602088)
Gene: INVS
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: INVS
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: NEPHRONOPHTHISIS 2 (OMIM:602088)
Gene: INVS
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: INVS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: INVS
Phenotype: Absence of renal corticomedullary differentiation (HP:0005564)
Associated disease: NEPHRONOPHTHISIS 2 (OMIM:602088)
Gene: INVS
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: INVS
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: INVS
Phenotype: Short stature (HP:0004322)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: INVS
Phenotype: Abnormality of bone mineral density (HP:0004348)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: INVS
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: INVS
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: INVS
Phenotype: Hypertension (HP:0000822)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: INVS
Phenotype: Hypertension (HP:0000822)
Associated disease: NEPHRONOPHTHISIS 2 (OMIM:602088)
Gene: INVS
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: NEPHRONOPHTHISIS 2 (OMIM:602088)
Gene: INVS
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: INVS
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: INVS
Phenotype: Respiratory failure (HP:0002878)
Associated disease: NEPHRONOPHTHISIS 2 (OMIM:602088)
Gene: INVS
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: NEPHRONOPHTHISIS 2 (OMIM:602088)
Gene: INVS
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: INVS
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: NEPHRONOPHTHISIS 2 (OMIM:602088)
Gene: INVS
Phenotype: Cataract (HP:0000518)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: INVS
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: INVS
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: INVS
Phenotype: Visual impairment (HP:0000505)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: INVS
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: INVS
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: INVS
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: INVS
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KCNH5
Phenotype: Clonic seizure (HP:0020221)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Focal aware motor seizure (HP:0020217)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Motor delay (HP:0001270)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Macroglossia (HP:0000158)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Status epilepticus (HP:0002133)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Late onset (HP:0003584)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Focal hemiclonic seizure (HP:0006813)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Autistic behavior (HP:0000729)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Focal impaired awareness motor seizure (HP:0032712)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: KCNH5
Phenotype: Infantile spasms (HP:0012469)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 (OMIM:620537)
Gene: FILIP1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Syndactyly (HP:0001159)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Exercise-induced myalgia (HP:0003738)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Motor delay (HP:0001270)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Seizure (HP:0001250)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Semilobar holoprosencephaly (HP:0002507)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Limited hip movement (HP:0008800)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Micropenis (HP:0000054)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Cleft palate (HP:0000175)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Cleft lip (HP:0410030)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Short columella (HP:0002000)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Parietal encephalocele (HP:0011816)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Gowers sign (HP:0003391)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Limitation of knee mobility (HP:0010501)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Shoulder contracture (HP:0034665)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Knee contracture (HP:0034671)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Dermal translucency (HP:0010648)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Scapular winging (HP:0003691)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Positional foot deformity (HP:0005656)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Short stature (HP:0004322)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Elbow contracture (HP:0034391)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Hip contracture (HP:0003273)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Long face (HP:0000276)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Kyphosis (HP:0002808)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)