TaoMedAI/RareMedData huggingface dataset:
Gene: H4C3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Oligodactyly (HP:0012165)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Wide mouth (HP:0000154)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Glue ear (HP:0040262)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Congenital onset (HP:0003577)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Esodeviation (HP:0020045)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Absence of renal corticomedullary differentiation (HP:0005564)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Amblyopia (HP:0000646)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Median pseudocleft lip (HP:0034185)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Psychosis (HP:0000709)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Hypertension (HP:0000822)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Retrognathia (HP:0000278)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Microcephaly (HP:0000252)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Growth delay (HP:0001510)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Low-set ears (HP:0000369)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Moderate myopia (HP:0031624)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Strabismus (HP:0000486)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Bifid nasal tip (HP:0000456)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Short foot (HP:0001773)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Ptosis (HP:0000508)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C3
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Gene: H4C5
Phenotype: Tapered finger (HP:0001182)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Monocular strabismus (HP:0010877)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: High anterior hairline (HP:0009890)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Bruxism (HP:0003763)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Nevus (HP:0003764)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Long fingers (HP:0100807)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Motor delay (HP:0001270)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Seizure (HP:0001250)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Hypotonia (HP:0001252)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Ataxia (HP:0001251)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Spasticity (HP:0001257)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Excessive wrinkled skin (HP:0007392)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Macroorchidism (HP:0000053)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Dystonia (HP:0001332)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Scoliosis (HP:0002650)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Cleft soft palate (HP:0000185)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Open mouth (HP:0000194)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Cleft palate (HP:0000175)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Wide mouth (HP:0000154)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Floppy infant (HP:0008947)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: High, narrow palate (HP:0002705)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Moon facies (HP:0500011)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Recurrent infections (HP:0002719)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Deep philtrum (HP:0002002)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Prominent glabella (HP:0002057)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Infantile onset (HP:0003593)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Impulsivity (HP:0100710)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Curly hair (HP:0002212)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Hemangioma (HP:0001028)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Broad columella (HP:0010761)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Recurrent fever (HP:0001954)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Microdontia (HP:0000691)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Short stature (HP:0004322)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Self-mutilation (HP:0000742)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Autism (HP:0000717)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Agitation (HP:0000713)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Precocious puberty (HP:0000826)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Ankyloglossia (HP:0010296)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Sacral dimple (HP:0000960)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Pes valgus (HP:0008081)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Epicanthus (HP:0000286)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Coarse facial features (HP:0000280)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Retrognathia (HP:0000278)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Mild myopia (HP:0025573)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Microcephaly (HP:0000252)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Brachycephaly (HP:0000248)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Failure to thrive (HP:0001508)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Growth delay (HP:0001510)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Thickened helices (HP:0000391)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Impaired mastication (HP:0005216)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Low-set ears (HP:0000369)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Short philtrum (HP:0000322)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Triangular face (HP:0000325)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Moderate myopia (HP:0031624)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Strabismus (HP:0000486)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Eclabion (HP:0012472)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Deeply set eye (HP:0000490)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Anteverted nares (HP:0000463)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Chronic constipation (HP:0012450)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Short neck (HP:0000470)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Pes planus (HP:0001763)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Prominent nose (HP:0000448)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Bulbous nose (HP:0000414)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Alternating exotropia (HP:0031717)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Long eyelashes (HP:0000527)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Unilateral renal hypoplasia (HP:0012583)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Horizontal eyebrow (HP:0011228)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: H4C5
Phenotype: Hypermetropia (HP:0000540)
Associated disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3 (OMIM:619950)
Gene: MAD1L1
Phenotype: Nevus (HP:0003764)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION (OMIM:620189)
Gene: MAD1L1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION (OMIM:620189)
Gene: MAD1L1
Phenotype: Lipoma (HP:0012032)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION (OMIM:620189)
Gene: MAD1L1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION (OMIM:620189)
Gene: MAD1L1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PROSTATE CANCER (OMIM:176807)
Gene: MAD1L1
Phenotype: Prostate cancer (HP:0012125)
Associated disease: PROSTATE CANCER (OMIM:176807)
Gene: MAD1L1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: PROSTATE CANCER (OMIM:176807)
Gene: MAD1L1
Phenotype: Multinodular goiter (HP:0005987)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION (OMIM:620189)
Gene: MAD1L1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION (OMIM:620189)
Gene: MAD1L1
Phenotype: Adenocarcinoma of the colon (HP:0040276)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION (OMIM:620189)
Gene: MAD1L1
Phenotype: Nystagmus (HP:0000639)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION (OMIM:620189)
Gene: MAD1L1
Phenotype: Childhood onset (HP:0011463)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION (OMIM:620189)