TaoMedAI/RareMedData huggingface dataset:
Gene: LSS
Phenotype: Short corpus callosum (HP:0200012)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: LSS
Phenotype: Short eyelashes (HP:0010764)
Associated disease: HYPOTRICHOSIS 14 (OMIM:618275)
Gene: LSS
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ALOPECIA-MENTAL RETARDATION SYNDROME 4 (OMIM:618840)
Gene: LSS
Phenotype: Photophobia (HP:0000613)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: LSS
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: LSS
Phenotype: Short stature (HP:0004322)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: LSS
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: ALOPECIA-MENTAL RETARDATION SYNDROME 4 (OMIM:618840)
Gene: LSS
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: ALOPECIA-MENTAL RETARDATION SYNDROME 4 (OMIM:618840)
Gene: LSS
Phenotype: Agitation (HP:0000713)
Associated disease: ALOPECIA-MENTAL RETARDATION SYNDROME 4 (OMIM:618840)
Gene: LSS
Phenotype: Autistic behavior (HP:0000729)
Associated disease: ALOPECIA-MENTAL RETARDATION SYNDROME 4 (OMIM:618840)
Gene: LSS
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: LSS
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: LSS
Phenotype: Atypical scarring of skin (HP:0000987)
Associated disease: Palmoplantar keratoderma and congenital alopecia, Wallis type; PPK-CA, Wallis type; Cataract-alopecia-sclerodactyly syndrome; Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia; Autosomal recessive palmoplantar keratoderma and congenital alopecia (ORPHA:1366)
Gene: LSS
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Palmoplantar keratoderma and congenital alopecia, Wallis type; PPK-CA, Wallis type; Cataract-alopecia-sclerodactyly syndrome; Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia; Autosomal recessive palmoplantar keratoderma and congenital alopecia (ORPHA:1366)
Gene: LSS
Phenotype: Sparse hair (HP:0008070)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: LSS
Phenotype: Sparse hair (HP:0008070)
Associated disease: HYPOTRICHOSIS 14 (OMIM:618275)
Gene: LSS
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: LSS
Phenotype: Ichthyosis (HP:0008064)
Associated disease: ALOPECIA-MENTAL RETARDATION SYNDROME 4 (OMIM:618840)
Gene: LSS
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: Palmoplantar keratoderma and congenital alopecia, Wallis type; PPK-CA, Wallis type; Cataract-alopecia-sclerodactyly syndrome; Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia; Autosomal recessive palmoplantar keratoderma and congenital alopecia (ORPHA:1366)
Gene: LSS
Phenotype: Alopecia (HP:0001596)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: LSS
Phenotype: Alopecia (HP:0001596)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: LSS
Phenotype: Alopecia (HP:0001596)
Associated disease: ALOPECIA-MENTAL RETARDATION SYNDROME 4 (OMIM:618840)
Gene: LSS
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: LSS
Phenotype: Microcephaly (HP:0000252)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: LSS
Phenotype: Microcephaly (HP:0000252)
Associated disease: ALOPECIA-MENTAL RETARDATION SYNDROME 4 (OMIM:618840)
Gene: LSS
Phenotype: Growth delay (HP:0001510)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: LSS
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: LSS
Phenotype: Macrotia (HP:0000400)
Associated disease: Perniola-Krajewska-Carnevale syndrome; Alopecia-intellectual disability syndrome (ORPHA:2850)
Gene: LSS
Phenotype: Cataract (HP:0000518)
Associated disease: Palmoplantar keratoderma and congenital alopecia, Wallis type; PPK-CA, Wallis type; Cataract-alopecia-sclerodactyly syndrome; Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia; Autosomal recessive palmoplantar keratoderma and congenital alopecia (ORPHA:1366)
Gene: LSS
Phenotype: Developmental cataract (HP:0000519)
Associated disease: CATARACT 44 (OMIM:616509)
Gene: LSS
Phenotype: Visual impairment (HP:0000505)
Associated disease: Palmoplantar keratoderma and congenital alopecia, Wallis type; PPK-CA, Wallis type; Cataract-alopecia-sclerodactyly syndrome; Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia; Autosomal recessive palmoplantar keratoderma and congenital alopecia (ORPHA:1366)
Gene: LSS
Phenotype: Visual loss (HP:0000572)
Associated disease: CATARACT 44 (OMIM:616509)
Gene: LTBP1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Syndactyly (HP:0001159)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Fragmented elastic fibers in the dermis (HP:0025167)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP1
Phenotype: Motor delay (HP:0001270)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Urethral diverticulum (HP:0008722)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Emphysema (HP:0002097)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Small bowel diverticula (HP:0002256)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Hernia (HP:0100790)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Lack of skin elasticity (HP:0100679)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Joint subluxation (HP:0032153)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Dermatochalasis (HP:0010750)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Peripheral pulmonary artery stenosis (HP:0004969)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP1
Phenotype: Multiple bladder diverticula (HP:0012619)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Short stature (HP:0004322)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Supravalvular aortic stenosis (HP:0004381)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Abnormal cheek morphology (HP:0004426)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Copper beaten skull (HP:0034271)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Premature sagging cheeks (HP:0034273)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Abnormal cardiac ventricular function (HP:0030872)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LTBP1
Phenotype: Abnormality of the thoracic cavity (HP:0045027)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Short thorax (HP:0010306)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Cutis laxa (HP:0000973)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Cutis laxa (HP:0000973)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LTBP1
Phenotype: Redundant skin (HP:0001582)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: LTBP1
Phenotype: High palate (HP:0000218)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE (OMIM:619451)
Gene: LTBP1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)