TaoMedAI/RareMedData huggingface dataset:
Gene: FRAS1
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Abnormal cortical gyration (HP:0002536)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Urethral atresia (HP:0000068)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Small scrotum (HP:0000046)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Micropenis (HP:0000054)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Hypospadias (HP:0000047)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Calvarial skull defect (HP:0001362)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Calvarial skull defect (HP:0001362)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Tongue muscle weakness (HP:0000183)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Cleft palate (HP:0000175)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Abnormal vagina morphology (HP:0000142)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Vaginal atresia (HP:0000148)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Vaginal atresia (HP:0000148)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Bilateral microphthalmos (HP:0007633)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Anal stenosis (HP:0002025)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Anal atresia (HP:0002023)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Tessier cleft (HP:0002006)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Laryngeal web (HP:0005950)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Encephalocele (HP:0002084)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Encephalocele (HP:0002084)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Female pseudohermaphroditism (HP:0010458)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Abnormal lung lobation (HP:0002101)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Aplasia/Hypoplasia of the thumb (HP:0009601)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Cutaneous finger syndactyly (HP:0010554)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Abnormal small intestine morphology (HP:0002244)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Abnormal hair pattern (HP:0010720)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Aplasia/Hypoplasia of the phalanges of the hand (HP:0009767)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Upper eyelid coloboma (HP:0000636)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Blindness (HP:0000618)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Blindness (HP:0000618)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Dental crowding (HP:0000678)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Dental crowding (HP:0000678)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Ectopic anus (HP:0004397)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Abnormality of the anus (HP:0004378)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Anorectal anomaly (HP:0012732)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Abnormal thymus morphology (HP:0000777)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Cleft ala nasi (HP:0003191)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Cleft ala nasi (HP:0003191)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Wide pubic symphysis (HP:0003183)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Wide pubic symphysis (HP:0003183)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Bifid tongue (HP:0010297)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Abnormal umbilicus morphology (HP:0001551)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: High palate (HP:0000218)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Death in infancy (HP:0001522)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Omphalocele (HP:0001539)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Cupped ear (HP:0000378)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Subglottic stenosis (HP:0001607)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Subglottic stenosis (HP:0001607)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Laryngeal stenosis (HP:0001602)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Laryngeal stenosis (HP:0001602)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Abnormality of the middle ear (HP:0000370)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Low-set ears (HP:0000369)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Lacrimal duct aplasia (HP:0007925)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Lacrimal duct aplasia (HP:0007925)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Severe T-cell immunodeficiency (HP:0005352)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Malformed lacrimal duct (HP:0007993)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Malformed lacrimal duct (HP:0007993)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Extension of hair growth on temples to lateral eyebrow (HP:0005325)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Small nail (HP:0001792)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Choanal stenosis (HP:0000452)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Wide nose (HP:0000445)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Aplasia/Hypoplasia of the sternum (HP:0006714)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Midline nasal groove (HP:0004112)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Midline nasal groove (HP:0004112)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: FRAS1
Phenotype: Anophthalmia (HP:0000528)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: FRASER SYNDROME 1 (OMIM:219000)
Gene: FRAS1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Cryptophthalmos-syndactyly syndrome; Fraser syndrome (ORPHA:2052)
Gene: ASRGL1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ASRGL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ASRGL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ASRGL1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ASRGL1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ASRGL1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ASRGL1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ASRGL1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ASRGL1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ASRGL1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ASRGL1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ASRGL1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ASRGL1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ASRGL1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ASRGL1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CENPT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES (OMIM:618702)
Gene: CENPT
Phenotype: Micropenis (HP:0000054)
Associated disease: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES (OMIM:618702)
Gene: CENPT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES (OMIM:618702)
Gene: CENPT
Phenotype: Scoliosis (HP:0002650)
Associated disease: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES (OMIM:618702)
Gene: CENPT
Phenotype: Narrow mouth (HP:0000160)
Associated disease: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES (OMIM:618702)
Gene: CENPT
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES (OMIM:618702)
Gene: CENPT
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES (OMIM:618702)
Gene: CENPT
Phenotype: Severe short stature (HP:0003510)
Associated disease: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES (OMIM:618702)
Gene: CENPT
Phenotype: Decreased body weight (HP:0004325)
Associated disease: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES (OMIM:618702)
Gene: CENPT
Phenotype: Delayed puberty (HP:0000823)
Associated disease: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES (OMIM:618702)
Gene: CENPT
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES (OMIM:618702)
Gene: CENPT
Phenotype: Dysharmonic delayed bone age (HP:0005832)
Associated disease: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES (OMIM:618702)
Gene: CENPT
Phenotype: Narrow face (HP:0000275)
Associated disease: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES (OMIM:618702)
Gene: CENPT
Phenotype: Microcephaly (HP:0000252)
Associated disease: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES (OMIM:618702)
Gene: CENPT
Phenotype: Delayed thelarche (HP:0025515)
Associated disease: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES (OMIM:618702)
Gene: CENPT
Phenotype: Genu valgum (HP:0002857)
Associated disease: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES (OMIM:618702)
Gene: CENPT
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES (OMIM:618702)
Gene: CENPT
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES (OMIM:618702)
Gene: CENPT
Phenotype: Prominent nose (HP:0000448)
Associated disease: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES (OMIM:618702)
Gene: CENPT
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES (OMIM:618702)
Gene: CENPT
Phenotype: Phimosis (HP:0001741)
Associated disease: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES (OMIM:618702)
Gene: CENPT
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES (OMIM:618702)
Gene: CENPT
Phenotype: Hypermetropia (HP:0000540)
Associated disease: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES (OMIM:618702)
Gene: EDC3
Phenotype: Heterochromia iridis (HP:0001100)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50 (OMIM:616460)
Gene: EDC3
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50 (OMIM:616460)
Gene: EDC3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50 (OMIM:616460)
Gene: EDC3
Phenotype: Childhood onset (HP:0011463)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50 (OMIM:616460)
Gene: EDC3
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50 (OMIM:616460)
Gene: EDC3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50 (OMIM:616460)
Gene: NAA15
Phenotype: Motor delay (HP:0001270)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 (OMIM:617787)
Gene: NAA15
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 (OMIM:617787)
Gene: NAA15
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 (OMIM:617787)
Gene: NAA15
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 (OMIM:617787)
Gene: NAA15
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 (OMIM:617787)
Gene: NAA15
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NAA15
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 (OMIM:617787)
Gene: NAA15
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 (OMIM:617787)
Gene: NAA15
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NAA15
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 (OMIM:617787)
Gene: NAA15
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 (OMIM:617787)
Gene: NAA15
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 (OMIM:617787)
Gene: NAA15
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NAA15
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NAA15
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: NAA15
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CTC1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 (OMIM:612199)
Gene: CTC1
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: CTC1
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 (OMIM:612199)
Gene: CTC1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 (OMIM:612199)
Gene: CTC1
Phenotype: Intestinal bleeding (HP:0002584)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 (OMIM:612199)
Gene: CTC1
Phenotype: Seizure (HP:0001250)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 (OMIM:612199)
Gene: CTC1
Phenotype: Ataxia (HP:0001251)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 (OMIM:612199)
Gene: CTC1
Phenotype: Dysarthria (HP:0001260)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 (OMIM:612199)
Gene: CTC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DC; Zinsser-Engman-Cole syndrome; DKC; Dyskeratosis congenita (ORPHA:1775)
Gene: CTC1
Phenotype: Spasticity (HP:0001257)
Associated disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1 (OMIM:612199)