TaoMedAI/RareMedData huggingface dataset:
Gene: PGAP2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Strabismus (HP:0000486)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Small nail (HP:0001792)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Brain atrophy (HP:0012444)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Short neck (HP:0000470)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3 (OMIM:614207)
Gene: PGAP2
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Shallow anterior chamber (HP:0000594)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Esotropia (HP:0000565)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PGAP2
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: RBMX
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES (OMIM:309555)
Gene: RBMX
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 11 (OMIM:300238)
Gene: RBMX
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Hypertonia (HP:0001276)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES (OMIM:309555)
Gene: RBMX
Phenotype: Seizure (HP:0001250)
Associated disease: X-linked intellectual disability, Shashi type; Syndromic X-linked intellectual disability type 11 (ORPHA:85286)
Gene: RBMX
Phenotype: Seizure (HP:0001250)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES (OMIM:309555)
Gene: RBMX
Phenotype: Spasticity (HP:0001257)
Associated disease: MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES (OMIM:309555)
Gene: RBMX
Phenotype: Spasticity (HP:0001257)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Death in childhood (HP:0003819)
Associated disease: MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES (OMIM:309555)
Gene: RBMX
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Macroorchidism (HP:0000053)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 11 (OMIM:300238)
Gene: RBMX
Phenotype: Macroorchidism (HP:0000053)
Associated disease: X-linked intellectual disability, Shashi type; Syndromic X-linked intellectual disability type 11 (ORPHA:85286)
Gene: RBMX
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Myoclonus (HP:0001336)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 11 (OMIM:300238)
Gene: RBMX
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 11 (OMIM:300238)
Gene: RBMX
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES (OMIM:309555)
Gene: RBMX
Phenotype: Apneic episodes in infancy (HP:0005949)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Palpebral edema (HP:0100540)
Associated disease: X-linked intellectual disability, Shashi type; Syndromic X-linked intellectual disability type 11 (ORPHA:85286)
Gene: RBMX
Phenotype: Equinovarus deformity (HP:0008110)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 11 (OMIM:300238)
Gene: RBMX
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: X-linked intellectual disability, Shashi type; Syndromic X-linked intellectual disability type 11 (ORPHA:85286)
Gene: RBMX
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES (OMIM:309555)
Gene: RBMX
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Blindness (HP:0000618)
Associated disease: MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES (OMIM:309555)
Gene: RBMX
Phenotype: Blindness (HP:0000618)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 11 (OMIM:300238)
Gene: RBMX
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: X-linked intellectual disability, Shashi type; Syndromic X-linked intellectual disability type 11 (ORPHA:85286)
Gene: RBMX
Phenotype: Profound hearing impairment (HP:0012715)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Contractures of the large joints (HP:0005781)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Short nose (HP:0003196)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 11 (OMIM:300238)
Gene: RBMX
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 11 (OMIM:300238)
Gene: RBMX
Phenotype: Coarse facial features (HP:0000280)
Associated disease: X-linked intellectual disability, Shashi type; Syndromic X-linked intellectual disability type 11 (ORPHA:85286)
Gene: RBMX
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES (OMIM:309555)
Gene: RBMX
Phenotype: Microcephaly (HP:0000252)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: X-linked intellectual disability, Shashi type; Syndromic X-linked intellectual disability type 11 (ORPHA:85286)
Gene: RBMX
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Obesity (HP:0001513)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 11 (OMIM:300238)
Gene: RBMX
Phenotype: Obesity (HP:0001513)
Associated disease: X-linked intellectual disability, Shashi type; Syndromic X-linked intellectual disability type 11 (ORPHA:85286)
Gene: RBMX
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Restricted large joint movement (HP:0005193)
Associated disease: MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES (OMIM:309555)
Gene: RBMX
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES (OMIM:309555)
Gene: RBMX
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 11 (OMIM:300238)
Gene: RBMX
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: X-linked intellectual disability, Shashi type; Syndromic X-linked intellectual disability type 11 (ORPHA:85286)
Gene: RBMX
Phenotype: Micrognathia (HP:0000347)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Macrotia (HP:0000400)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 11 (OMIM:300238)
Gene: RBMX
Phenotype: Macrotia (HP:0000400)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Macrotia (HP:0000400)
Associated disease: X-linked intellectual disability, Shashi type; Syndromic X-linked intellectual disability type 11 (ORPHA:85286)
Gene: RBMX
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Bulbous nose (HP:0000414)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 11 (OMIM:300238)
Gene: RBMX
Phenotype: Bulbous nose (HP:0000414)
Associated disease: X-linked intellectual disability, Shashi type; Syndromic X-linked intellectual disability type 11 (ORPHA:85286)
Gene: RBMX
Phenotype: Small fontanelle (HP:0005486)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Calcaneovalgus deformity (HP:0001848)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Gene: RBMX
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 11 (OMIM:300238)
Gene: RBMX
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: X-linked intellectual disability, Shashi type; Syndromic X-linked intellectual disability type 11 (ORPHA:85286)
Gene: TNRC6A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6 (OMIM:618074)
Gene: TNRC6A
Phenotype: Adult onset (HP:0003581)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6 (OMIM:618074)
Gene: TNRC6A
Phenotype: Myoclonic tremor (HP:0033054)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6 (OMIM:618074)
Gene: ANGPTL3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2 (OMIM:605019)
Gene: ANGPTL3
Phenotype: Hypotriglyceridemia (HP:0012153)
Associated disease: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2 (OMIM:605019)
Gene: ANGPTL3
Phenotype: Decreased LDL cholesterol concentration (HP:0003563)
Associated disease: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2 (OMIM:605019)
Gene: RRP7A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:619453)
Gene: RRP7A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:619453)
Gene: RRP7A
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:619453)
Gene: RRP7A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:619453)
Gene: RRP7A
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:619453)
Gene: RRP7A
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MICROCEPHALY 28, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:619453)
Gene: POLL
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLL
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLL
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLL
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLL
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLL
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLL
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLL
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLL
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLL
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLL
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLL
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLL
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLL
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLL
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLL
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLL
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLL
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLL
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLL
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLL
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLL
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLL
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLL
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLL
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLL
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLL
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLL
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLL
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLL
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLL
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MCAT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OPTIC ATROPHY 15 (OMIM:620583)