TaoMedAI/RareMedData huggingface dataset:
Gene: POP1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POP1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Short femoral neck (HP:0100864)
Associated disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)
Gene: POP1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POP1
Phenotype: Hypoplasia of the femoral head (HP:0008802)
Associated disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)
Gene: POP1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)
Gene: POP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)
Gene: POP1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POP1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Hypoplastic iliac body (HP:0008824)
Associated disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)
Gene: POP1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POP1
Phenotype: Coxa valga (HP:0002673)
Associated disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)
Gene: POP1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)
Gene: POP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POP1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POP1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Macroglossia (HP:0000158)
Associated disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)
Gene: POP1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)
Gene: POP1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)
Gene: POP1
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)
Gene: POP1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)
Gene: POP1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POP1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Thoracolumbar kyphoscoliosis (HP:0003423)
Associated disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)
Gene: POP1
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)
Gene: POP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)
Gene: POP1
Phenotype: Cervical spine instability (HP:0010646)
Associated disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)
Gene: POP1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POP1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Posterior wedging of vertebral bodies (HP:0008444)
Associated disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)
Gene: POP1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POP1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POP1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POP1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POP1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POP1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POP1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Hypodontia (HP:0000668)
Associated disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)
Gene: POP1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Short stature (HP:0004322)
Associated disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)
Gene: POP1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POP1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POP1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Shield chest (HP:0000914)
Associated disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)
Gene: POP1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)
Gene: POP1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POP1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POP1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POP1
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)
Gene: POP1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Sparse hair (HP:0008070)
Associated disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)
Gene: POP1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Coxa vara (HP:0002812)
Associated disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)
Gene: POP1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POP1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POP1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)
Gene: POP1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POP1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POP1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POP1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)
Gene: POP1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POP1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Small nail (HP:0001792)
Associated disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)
Gene: POP1
Phenotype: Short neck (HP:0000470)
Associated disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)
Gene: POP1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POP1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POP1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MSL3
Phenotype: Adducted thumb (HP:0001181)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Nevus (HP:0003764)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Seizure (HP:0001250)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Absent speech (HP:0001344)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Progressive spasticity (HP:0002191)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Hemangioma (HP:0001028)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Short palm (HP:0004279)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Atypical behavior (HP:0000708)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Wide nasal ridge (HP:0012811)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Precocious puberty (HP:0000826)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Epicanthus (HP:0000286)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Retrognathia (HP:0000278)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Camptodactyly (HP:0012385)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Low-set ears (HP:0000369)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Deeply set eye (HP:0000490)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Chronic constipation (HP:0012450)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Short neck (HP:0000470)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Short foot (HP:0001773)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Broad foot (HP:0001769)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Choanal stenosis (HP:0000452)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: MSL3
Phenotype: Telecanthus (HP:0000506)
Associated disease: BASILICATA-AKHTAR SYNDROME (OMIM:301032)
Gene: ASCC3
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Slender finger (HP:0001238)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Narrow palate (HP:0000189)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Cleft palate (HP:0000175)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Constipation (HP:0002019)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Dysphagia (HP:0002015)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Developmental regression (HP:0002376)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Short stature (HP:0004322)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Anxiety (HP:0000739)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Autism (HP:0000717)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Osteopenia (HP:0000938)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Clinodactyly (HP:0030084)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Kyphosis (HP:0002808)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Macrodontia (HP:0001572)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Appendicular hypotonia (HP:0012389)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Fatigue (HP:0012378)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: High forehead (HP:0000348)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Pointed chin (HP:0000307)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Gene: ASCC3
Phenotype: Strabismus (HP:0000486)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)