TaoMedAI/RareMedData huggingface dataset:
Gene: PDE10A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2 (OMIM:616922)
Gene: PDE10A
Phenotype: Dysarthria (HP:0001260)
Associated disease: Infantile-onset orofacial-trunk-limbs dyskinesia; Infantile-onset generalized dyskinesia with orofacial involvement (ORPHA:494526)
Gene: PDE10A
Phenotype: Dysarthria (HP:0001260)
Associated disease: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET (OMIM:616921)
Gene: PDE10A
Phenotype: Abnormal corpus striatum morphology (HP:0010994)
Associated disease: Childhood-onset benign chorea with striatal involvement (ORPHA:494541)
Gene: PDE10A
Phenotype: Abnormal corpus striatum morphology (HP:0010994)
Associated disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2 (OMIM:616922)
Gene: PDE10A
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: Childhood-onset benign chorea with striatal involvement (ORPHA:494541)
Gene: PDE10A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET (OMIM:616921)
Gene: PDE10A
Phenotype: Tremor (HP:0001337)
Associated disease: Infantile-onset orofacial-trunk-limbs dyskinesia; Infantile-onset generalized dyskinesia with orofacial involvement (ORPHA:494526)
Gene: PDE10A
Phenotype: Tremor (HP:0001337)
Associated disease: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET (OMIM:616921)
Gene: PDE10A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2 (OMIM:616922)
Gene: PDE10A
Phenotype: Parkinsonism (HP:0001300)
Associated disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2 (OMIM:616922)
Gene: PDE10A
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET (OMIM:616921)
Gene: PDE10A
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Infantile-onset orofacial-trunk-limbs dyskinesia; Infantile-onset generalized dyskinesia with orofacial involvement (ORPHA:494526)
Gene: PDE10A
Phenotype: Striatal T2 hyperintensity (HP:0031206)
Associated disease: Childhood-onset benign chorea with striatal involvement (ORPHA:494541)
Gene: PDE10A
Phenotype: Chorea (HP:0002072)
Associated disease: Infantile-onset orofacial-trunk-limbs dyskinesia; Infantile-onset generalized dyskinesia with orofacial involvement (ORPHA:494526)
Gene: PDE10A
Phenotype: Chorea (HP:0002072)
Associated disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2 (OMIM:616922)
Gene: PDE10A
Phenotype: Chorea (HP:0002072)
Associated disease: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET (OMIM:616921)
Gene: PDE10A
Phenotype: Chorea (HP:0002072)
Associated disease: Childhood-onset benign chorea with striatal involvement (ORPHA:494541)
Gene: PDE10A
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Childhood-onset benign chorea with striatal involvement (ORPHA:494541)
Gene: PDE10A
Phenotype: Infantile onset (HP:0003593)
Associated disease: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET (OMIM:616921)
Gene: PDE10A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Infantile-onset orofacial-trunk-limbs dyskinesia; Infantile-onset generalized dyskinesia with orofacial involvement (ORPHA:494526)
Gene: PDE10A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET (OMIM:616921)
Gene: PDE10A
Phenotype: Frequent falls (HP:0002359)
Associated disease: Infantile-onset orofacial-trunk-limbs dyskinesia; Infantile-onset generalized dyskinesia with orofacial involvement (ORPHA:494526)
Gene: PDE10A
Phenotype: Frequent falls (HP:0002359)
Associated disease: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET (OMIM:616921)
Gene: PDE10A
Phenotype: Nonprogressive (HP:0003680)
Associated disease: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2 (OMIM:616922)
Gene: PDE10A
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Infantile-onset orofacial-trunk-limbs dyskinesia; Infantile-onset generalized dyskinesia with orofacial involvement (ORPHA:494526)
Gene: PDE10A
Phenotype: Unsteady gait (HP:0002317)
Associated disease: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET (OMIM:616921)
Gene: PDE10A
Phenotype: Dyskinesia (HP:0100660)
Associated disease: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET (OMIM:616921)
Gene: PDE10A
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: Infantile-onset orofacial-trunk-limbs dyskinesia; Infantile-onset generalized dyskinesia with orofacial involvement (ORPHA:494526)
Gene: PDE10A
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET (OMIM:616921)
Gene: PDE10A
Phenotype: Drooling (HP:0002307)
Associated disease: Infantile-onset orofacial-trunk-limbs dyskinesia; Infantile-onset generalized dyskinesia with orofacial involvement (ORPHA:494526)
Gene: PDE10A
Phenotype: Drooling (HP:0002307)
Associated disease: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET (OMIM:616921)
Gene: PDE10A
Phenotype: Anxiety (HP:0000739)
Associated disease: Childhood-onset benign chorea with striatal involvement (ORPHA:494541)
Gene: PDE10A
Phenotype: Dementia (HP:0000726)
Associated disease: Childhood-onset benign chorea with striatal involvement (ORPHA:494541)
Gene: PDE10A
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: Infantile-onset orofacial-trunk-limbs dyskinesia; Infantile-onset generalized dyskinesia with orofacial involvement (ORPHA:494526)
Gene: PDE10A
Phenotype: Hemiballismus (HP:0100248)
Associated disease: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET (OMIM:616921)
Gene: PDE10A
Phenotype: Hemiballismus (HP:0100248)
Associated disease: Infantile-onset orofacial-trunk-limbs dyskinesia; Infantile-onset generalized dyskinesia with orofacial involvement (ORPHA:494526)
Gene: PDE10A
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Infantile-onset orofacial-trunk-limbs dyskinesia; Infantile-onset generalized dyskinesia with orofacial involvement (ORPHA:494526)
Gene: SRCAP
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Brachydactyly (HP:0001156)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Expressive language delay (HP:0002474)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Congenital posterior urethral valve (HP:0010957)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Congenital posterior urethral valve (HP:0010957)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Dilatation of the renal pelvis (HP:0010946)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Cochlear malformation (HP:0008554)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Seizure (HP:0001250)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Dysarthria (HP:0001260)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Humeral pseudarthrosis (HP:0003879)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Hypospadias (HP:0000047)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Hypospadias (HP:0000047)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Absent speech (HP:0001344)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Celiac disease (HP:0002608)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Celiac disease (HP:0002608)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Wide mouth (HP:0000154)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Wide mouth (HP:0000154)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Wide mouth (HP:0000154)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Persistence of primary teeth (HP:0006335)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Renal cyst (HP:0000107)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Constipation (HP:0002019)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Short middle phalanx of the 2nd finger (HP:0009577)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Infantile onset (HP:0003593)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Impulsivity (HP:0100710)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Hirsutism (HP:0001007)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Short thumb (HP:0009778)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Low hanging columella (HP:0009765)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Low hanging columella (HP:0009765)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Short middle phalanx of the 5th finger (HP:0004220)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Short metacarpal (HP:0010049)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Short 5th metacarpal (HP:0010047)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Short 1st metacarpal (HP:0010034)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Oligodontia (HP:0000677)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Microdontia (HP:0000691)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Microdontia (HP:0000691)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Carious teeth (HP:0000670)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Carious teeth (HP:0000670)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Broad fingertip (HP:0011300)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Broad fingertip (HP:0011300)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Broad thumb (HP:0011304)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Short stature (HP:0004322)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Short stature (HP:0004322)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Short stature (HP:0004322)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Glanular hypospadias (HP:0000807)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Enlarged joints (HP:0003037)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRCAP
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Anxiety (HP:0000739)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Short attention span (HP:0000736)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: FLOATING-HARBOR SYNDROME (OMIM:136140)
Gene: SRCAP
Phenotype: Restlessness (HP:0000711)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Autistic behavior (HP:0000729)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Floating-Harbor syndrome (ORPHA:2044)
Gene: SRCAP
Phenotype: Psychosis (HP:0000709)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Atypical behavior (HP:0000708)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES (OMIM:619595)
Gene: SRCAP
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRCAP
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)