TaoMedAI/RareMedData huggingface dataset:
Gene: FREM2
Phenotype: Cryptophthalmos (HP:0001126)
Associated disease: CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED (OMIM:123570)
Gene: FREM2
Phenotype: Cryptophthalmos (HP:0001126)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Myelomeningocele (HP:0002475)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Bilateral renal agenesis (HP:0010958)
Associated disease: FRASER SYNDROME 2 (OMIM:617666)
Gene: FREM2
Phenotype: Microtia (HP:0008551)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: FRASER SYNDROME 2 (OMIM:617666)
Gene: FREM2
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Laryngeal hypoplasia (HP:0008749)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: FRASER SYNDROME 2 (OMIM:617666)
Gene: FREM2
Phenotype: Urethral atresia (HP:0000068)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: FRASER SYNDROME 2 (OMIM:617666)
Gene: FREM2
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Small scrotum (HP:0000046)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Hypospadias (HP:0000047)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Calvarial skull defect (HP:0001362)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FRASER SYNDROME 2 (OMIM:617666)
Gene: FREM2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED (OMIM:123570)
Gene: FREM2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: FRASER SYNDROME 2 (OMIM:617666)
Gene: FREM2
Phenotype: Abnormal vagina morphology (HP:0000142)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Vaginal atresia (HP:0000148)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: FRASER SYNDROME 2 (OMIM:617666)
Gene: FREM2
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Renal agenesis (HP:0000104)
Associated disease: FRASER SYNDROME 2 (OMIM:617666)
Gene: FREM2
Phenotype: Anal stenosis (HP:0002025)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Anal atresia (HP:0002023)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Anal atresia (HP:0002023)
Associated disease: FRASER SYNDROME 2 (OMIM:617666)
Gene: FREM2
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Encephalocele (HP:0002084)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Aplasia of the bladder (HP:0010477)
Associated disease: FRASER SYNDROME 2 (OMIM:617666)
Gene: FREM2
Phenotype: Female pseudohermaphroditism (HP:0010458)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Abnormal lung lobation (HP:0002101)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Congenital onset (HP:0003577)
Associated disease: FRASER SYNDROME 2 (OMIM:617666)
Gene: FREM2
Phenotype: Abnormal hair pattern (HP:0010720)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Rectal atresia (HP:0025023)
Associated disease: FRASER SYNDROME 2 (OMIM:617666)
Gene: FREM2
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Ankyloblepharon (HP:0009755)
Associated disease: CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED (OMIM:123570)
Gene: FREM2
Phenotype: Blindness (HP:0000618)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Dental crowding (HP:0000678)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Ectopic anus (HP:0004397)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Anorectal anomaly (HP:0012732)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: FRASER SYNDROME 2 (OMIM:617666)
Gene: FREM2
Phenotype: Hypoplasia of the thymus (HP:0000778)
Associated disease: FRASER SYNDROME 2 (OMIM:617666)
Gene: FREM2
Phenotype: Cleft ala nasi (HP:0003191)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Wide pubic symphysis (HP:0003183)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Bifid tongue (HP:0010297)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Abdominal distention (HP:0003270)
Associated disease: FRASER SYNDROME 2 (OMIM:617666)
Gene: FREM2
Phenotype: Short thorax (HP:0010306)
Associated disease: FRASER SYNDROME 2 (OMIM:617666)
Gene: FREM2
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: FRASER SYNDROME 2 (OMIM:617666)
Gene: FREM2
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: FRASER SYNDROME 2 (OMIM:617666)
Gene: FREM2
Phenotype: High palate (HP:0000218)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: FRASER SYNDROME 2 (OMIM:617666)
Gene: FREM2
Phenotype: Death in infancy (HP:0001522)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Omphalocele (HP:0001539)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Subglottic stenosis (HP:0001607)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Laryngeal stenosis (HP:0001602)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Abnormality of the middle ear (HP:0000370)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Low-set ears (HP:0000369)
Associated disease: FRASER SYNDROME 2 (OMIM:617666)
Gene: FREM2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Ureteral agenesis (HP:0012300)
Associated disease: FRASER SYNDROME 2 (OMIM:617666)
Gene: FREM2
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Lacrimal duct aplasia (HP:0007925)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Hypoplasia of the epiglottis (HP:0005349)
Associated disease: FRASER SYNDROME 2 (OMIM:617666)
Gene: FREM2
Phenotype: Malformed lacrimal duct (HP:0007993)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Short neck (HP:0000470)
Associated disease: FRASER SYNDROME 2 (OMIM:617666)
Gene: FREM2
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Wide nose (HP:0000445)
Associated disease: FRASER SYNDROME 2 (OMIM:617666)
Gene: FREM2
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: FRASER SYNDROME 2 (OMIM:617666)
Gene: FREM2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: FRASER SYNDROME 2 (OMIM:617666)
Gene: FREM2
Phenotype: Midline nasal groove (HP:0004112)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Glaucoma (HP:0000501)
Associated disease: CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED (OMIM:123570)
Gene: FREM2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FREM2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: FRASER SYNDROME 2 (OMIM:617666)
Gene: FREM2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: CRYPTOPHTHALMOS, UNILATERAL OR BILATERAL, ISOLATED (OMIM:123570)
Gene: GLDN
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: GLDN
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: GLDN
Phenotype: Flexion contracture (HP:0001371)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 11 (OMIM:617194)
Gene: GLDN
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: GLDN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 11 (OMIM:617194)
Gene: GLDN
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: GLDN
Phenotype: Scoliosis (HP:0002650)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: GLDN
Phenotype: Cleft palate (HP:0000175)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: GLDN
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: GLDN
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 11 (OMIM:617194)
Gene: GLDN
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: GLDN
Phenotype: Absent palmar crease (HP:0010489)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: GLDN
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: GLDN
Phenotype: Congenital onset (HP:0003577)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 11 (OMIM:617194)
Gene: GLDN
Phenotype: Pterygium (HP:0001059)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: GLDN
Phenotype: Hypokinesia (HP:0002375)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: GLDN
Phenotype: Akinesia (HP:0002304)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: GLDN
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: GLDN
Phenotype: Third trimester onset (HP:0034197)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 11 (OMIM:617194)
Gene: GLDN
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 11 (OMIM:617194)
Gene: GLDN
Phenotype: Flexion contracture of finger (HP:0012785)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 11 (OMIM:617194)
Gene: GLDN
Phenotype: Retrognathia (HP:0000278)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 11 (OMIM:617194)
Gene: GLDN
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: GLDN
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: GLDN
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: GLDN
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 11 (OMIM:617194)
Gene: GLDN
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 11 (OMIM:617194)
Gene: GLDN
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: GLDN
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 11 (OMIM:617194)
Gene: GLDN
Phenotype: Camptodactyly (HP:0012385)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 11 (OMIM:617194)
Gene: GLDN
Phenotype: Intestinal hypoplasia (HP:0005245)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: GLDN
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: GLDN
Phenotype: Micrognathia (HP:0000347)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: GLDN
Phenotype: Hypertelorism (HP:0000316)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: GLDN
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 11 (OMIM:617194)
Gene: GLDN
Phenotype: Microretrognathia (HP:0000308)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 11 (OMIM:617194)
Gene: GLDN
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: GLDN
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: GLDN
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 11 (OMIM:617194)
Gene: FMN1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FMN1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FMN1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FMN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FMN1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FMN1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FMN1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FMN1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FMN1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FMN1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FMN1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FMN1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FMN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FMN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FMN1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FMN1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FMN1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FMN1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FMN1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FMN1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FMN1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FMN1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FMN1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FMN1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FMN1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FMN1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FMN1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FMN1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FMN1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FMN1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FMN1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FMN1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FMN1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FMN1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FMN1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)