TaoMedAI/RareMedData huggingface dataset:
Gene: ARX
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (OMIM:300419)
Gene: ARX
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Proud-Levine-Carpenter syndrome; Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome; ACC-abnormal genitalia syndrome; Proud syndrome; Corpus callosum agenesis-abnormal genitalia syndrome (ORPHA:2508)
Gene: ARX
Phenotype: Long upper lip (HP:0011341)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: Synophrys (HP:0000664)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: Short stature (HP:0004322)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: Short stature (HP:0004322)
Associated disease: Proud-Levine-Carpenter syndrome; Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome; ACC-abnormal genitalia syndrome; Proud syndrome; Corpus callosum agenesis-abnormal genitalia syndrome (ORPHA:2508)
Gene: ARX
Phenotype: Focal dystonia (HP:0004373)
Associated disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309510)
Gene: ARX
Phenotype: Hyperactivity (HP:0000752)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309510)
Gene: ARX
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: X-linked intellectual disability-dystonia-dysarthria syndrome; Partington syndrome; Partington-Mulley syndrome (ORPHA:94083)
Gene: ARX
Phenotype: Autistic behavior (HP:0000729)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Atypical behavior (HP:0000708)
Associated disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309510)
Gene: ARX
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease:  (ORPHA:697160)
Gene: ARX
Phenotype: Broad phalanx of the toes (HP:0010174)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Limb joint contracture (HP:0003121)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Precocious puberty (HP:0000826)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: Proud-Levine-Carpenter syndrome; Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome; ACC-abnormal genitalia syndrome; Proud syndrome; Corpus callosum agenesis-abnormal genitalia syndrome (ORPHA:2508)
Gene: ARX
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: X-linked lissencephaly with abnormal genitalia; X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome; X-linked lissencephaly with ambiguous genitalia; XLAG (X-linked lissencephaly with abnormal genitalia) syndrome (ORPHA:452)
Gene: ARX
Phenotype: Short finger (HP:0009381)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Coarse facial features (HP:0000280)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Proud-Levine-Carpenter syndrome; Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome; ACC-abnormal genitalia syndrome; Proud syndrome; Corpus callosum agenesis-abnormal genitalia syndrome (ORPHA:2508)
Gene: ARX
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: Microcephaly (HP:0000252)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Microcephaly (HP:0000252)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: Microcephaly (HP:0000252)
Associated disease: Proud-Levine-Carpenter syndrome; Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome; ACC-abnormal genitalia syndrome; Proud syndrome; Corpus callosum agenesis-abnormal genitalia syndrome (ORPHA:2508)
Gene: ARX
Phenotype: Microcephaly (HP:0000252)
Associated disease: X-linked lissencephaly with abnormal genitalia; X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome; X-linked lissencephaly with ambiguous genitalia; XLAG (X-linked lissencephaly with abnormal genitalia) syndrome (ORPHA:452)
Gene: ARX
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: High palate (HP:0000218)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: High palate (HP:0000218)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: Death in infancy (HP:0001522)
Associated disease: X-linked lissencephaly with abnormal genitalia; X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome; X-linked lissencephaly with ambiguous genitalia; XLAG (X-linked lissencephaly with abnormal genitalia) syndrome (ORPHA:452)
Gene: ARX
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Failure to thrive (HP:0001508)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Broad finger (HP:0001500)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Growth delay (HP:0001510)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Camptodactyly (HP:0012385)
Associated disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309510)
Gene: ARX
Phenotype: Low-set ears (HP:0000369)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: Sloping forehead (HP:0000340)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Long philtrum (HP:0000343)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: High forehead (HP:0000348)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: Micrognathia (HP:0000347)
Associated disease: X-linked lissencephaly with abnormal genitalia; X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome; X-linked lissencephaly with ambiguous genitalia; XLAG (X-linked lissencephaly with abnormal genitalia) syndrome (ORPHA:452)
Gene: ARX
Phenotype: Micrognathia (HP:0000347)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: X-linked lissencephaly with abnormal genitalia; X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome; X-linked lissencephaly with ambiguous genitalia; XLAG (X-linked lissencephaly with abnormal genitalia) syndrome (ORPHA:452)
Gene: ARX
Phenotype: Triangular face (HP:0000325)
Associated disease: X-linked intellectual disability-dystonia-dysarthria syndrome; Partington syndrome; Partington-Mulley syndrome (ORPHA:94083)
Gene: ARX
Phenotype: Triangular face (HP:0000325)
Associated disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309510)
Gene: ARX
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: X-linked lissencephaly with abnormal genitalia; X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome; X-linked lissencephaly with ambiguous genitalia; XLAG (X-linked lissencephaly with abnormal genitalia) syndrome (ORPHA:452)
Gene: ARX
Phenotype: Uni- and bilateral multifocal epileptiform discharges (HP:0011190)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Generalized clonic seizure (HP:0011169)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: X-linked lissencephaly with abnormal genitalia; X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome; X-linked lissencephaly with ambiguous genitalia; XLAG (X-linked lissencephaly with abnormal genitalia) syndrome (ORPHA:452)
Gene: ARX
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (OMIM:300419)
Gene: ARX
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Strabismus (HP:0000486)
Associated disease: Proud-Levine-Carpenter syndrome; Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome; ACC-abnormal genitalia syndrome; Proud syndrome; Corpus callosum agenesis-abnormal genitalia syndrome (ORPHA:2508)
Gene: ARX
Phenotype: Strabismus (HP:0000486)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Strabismus (HP:0000486)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: Infantile spasms (HP:0012469)
Associated disease:  (ORPHA:697160)
Gene: ARX
Phenotype: Infantile spasms (HP:0012469)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Infantile spasms (HP:0012469)
Associated disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309510)
Gene: ARX
Phenotype: Infantile spasms (HP:0012469)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Hyperconvex nail (HP:0001795)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: Anteverted nares (HP:0000463)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Delayed myelination (HP:0012448)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease:  (ORPHA:697160)
Gene: ARX
Phenotype: Pes planus (HP:0001763)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (OMIM:300419)
Gene: ARX
Phenotype: Protruding ear (HP:0000411)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: Protruding ear (HP:0000411)
Associated disease: Proud-Levine-Carpenter syndrome; Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome; ACC-abnormal genitalia syndrome; Proud syndrome; Corpus callosum agenesis-abnormal genitalia syndrome (ORPHA:2508)
Gene: ARX
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: Overlapping toe (HP:0001845)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: Visual impairment (HP:0000505)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: Absent thumbnail (HP:0012554)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Prominent forehead (HP:0011220)
Associated disease: X-linked lissencephaly with abnormal genitalia; X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome; X-linked lissencephaly with ambiguous genitalia; XLAG (X-linked lissencephaly with abnormal genitalia) syndrome (ORPHA:452)
Gene: ARX
Phenotype: Microphthalmia (HP:0000568)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ADAMTS15
Phenotype: Tapered distal phalanges of finger (HP:0009884)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Gene: ADAMTS15
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Gene: ADAMTS15
Phenotype: Acroparesthesia (HP:0031006)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Gene: ADAMTS15
Phenotype: Palmar hyperhidrosis (HP:0006089)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Gene: ADAMTS15
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Gene: ADAMTS15
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Gene: ADAMTS15
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Gene: ADAMTS15
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Gene: ADAMTS15
Phenotype: Hypoesthesia (HP:0033748)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Gene: ADAMTS15
Phenotype: Scoliosis (HP:0002650)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Gene: ADAMTS15
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Gene: ADAMTS15
Phenotype: Congenital onset (HP:0003577)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Gene: ADAMTS15
Phenotype: Agenesis of maxillary incisor (HP:0200160)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Gene: ADAMTS15
Phenotype: Absent distal interphalangeal creases (HP:0001032)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Gene: ADAMTS15
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Gene: ADAMTS15
Phenotype: Dental crowding (HP:0000678)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Gene: ADAMTS15
Phenotype: Hand muscle atrophy (HP:0009130)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Gene: ADAMTS15
Phenotype: Congenital finger flexion contractures (HP:0005879)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Gene: ADAMTS15
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Gene: ADAMTS15
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Gene: ADAMTS15
Phenotype: High palate (HP:0000218)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Gene: ADAMTS15
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Gene: ADAMTS15
Phenotype: Low-set ears (HP:0000369)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Gene: ADAMTS15
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Gene: ADAMTS15
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Gene: ADAMTS15
Phenotype: Strabismus (HP:0000486)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Gene: ADAMTS15
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Gene: ADAMTS15
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Gene: ADAMTS15
Phenotype: Ptosis (HP:0000508)
Associated disease: ARTHROGRYPOSIS, DISTAL, TYPE 12 (OMIM:620545)
Gene: ADAMTS17
Phenotype: Brachydactyly (HP:0001156)
Associated disease: WEILL-MARCHESANI SYNDROME 4 (OMIM:613195)
Gene: ADAMTS17
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS17
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS17
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS17
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS17
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS17
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS17
Phenotype: Joint stiffness (HP:0001387)
Associated disease: WEILL-MARCHESANI SYNDROME 4 (OMIM:613195)
Gene: ADAMTS17
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS17
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS17
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS17
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: WEILL-MARCHESANI SYNDROME 4 (OMIM:613195)
Gene: ADAMTS17
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS17
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS17
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS17
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS17
Phenotype: Microspherophakia (HP:0030961)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS17
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS17
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS17
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Thickened skin (HP:0001072)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS17
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTS17
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: WEILL-MARCHESANI SYNDROME 4 (OMIM:613195)
Gene: ADAMTS17
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS17
Phenotype: Iridodonesis (HP:0100693)
Associated disease: WEILL-MARCHESANI SYNDROME 4 (OMIM:613195)
Gene: ADAMTS17
Phenotype: Short thumb (HP:0009778)
Associated disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Gene: ADAMTS17
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTS17
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)