TaoMedAI/RareMedData huggingface dataset:
Gene: PUM1
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Fine hair (HP:0002213)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Hirsutism (HP:0001007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Small hand (HP:0200055)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Low hanging columella (HP:0009765)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Short middle phalanx of the 5th finger (HP:0004220)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Oligodontia (HP:0000677)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Appendicular hypotonia (HP:0012389)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Pointed chin (HP:0000307)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Typical absence seizure (HP:0011147)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Prominent nose (HP:0000448)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: PUM1
Phenotype: Ptosis (HP:0000508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Gene: RIMS2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RIMS2
Phenotype: Ataxia (HP:0001251)
Associated disease: CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE (OMIM:618970)
Gene: RIMS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE (OMIM:618970)
Gene: RIMS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RIMS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE (OMIM:618970)
Gene: RIMS2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RIMS2
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RIMS2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RIMS2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE (OMIM:618970)
Gene: RIMS2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RIMS2
Phenotype: Nystagmus (HP:0000639)
Associated disease: CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE (OMIM:618970)
Gene: RIMS2
Phenotype: Photophobia (HP:0000613)
Associated disease: CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE (OMIM:618970)
Gene: RIMS2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RIMS2
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE (OMIM:618970)
Gene: RIMS2
Phenotype: Anxiety (HP:0000739)
Associated disease: CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE (OMIM:618970)
Gene: RIMS2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE (OMIM:618970)
Gene: RIMS2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE (OMIM:618970)
Gene: RIMS2
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RIMS2
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RIMS2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RIMS2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RIMS2
Phenotype: Retinal thinning (HP:0030329)
Associated disease: CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE (OMIM:618970)
Gene: RIMS2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RIMS2
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RIMS2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RIMS2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE (OMIM:618970)
Gene: RIMS2
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CEP57
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Round ear (HP:0100830)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Seizure (HP:0001250)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Hypotonia (HP:0001252)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Hypotonia (HP:0001252)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Severe intrauterine growth retardation (HP:0008846)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Neoplasm (HP:0002664)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Rhizomelia (HP:0008905)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Narrow mouth (HP:0000160)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Cleft palate (HP:0000175)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Stomach cancer (HP:0012126)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Osteolysis (HP:0002797)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Temporal bossing (HP:0032569)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Abnormal lung lobation (HP:0002101)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Abnormal lung lobation (HP:0002101)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Apnea (HP:0002104)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Sleep apnea (HP:0010535)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Vaginal neoplasm (HP:0100650)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Intestinal polyposis (HP:0200008)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Epidermoid cyst (HP:0200040)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Hypotelorism (HP:0000601)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Short stature (HP:0004322)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Short stature (HP:0004322)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Colon cancer (HP:0003003)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Short nose (HP:0003196)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Sparse hair (HP:0008070)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Epicanthus (HP:0000286)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Epicanthus (HP:0000286)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Long face (HP:0000276)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Clinodactyly (HP:0030084)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Microcephaly (HP:0000252)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Microcephaly (HP:0000252)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Rhabdomyosarcoma (HP:0002859)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Ascites (HP:0001541)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Growth delay (HP:0001510)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Growth delay (HP:0001510)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Low-set ears (HP:0000369)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Subvalvular aortic stenosis (HP:0001682)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Subvalvular aortic stenosis (HP:0001682)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Abnormal aortic morphology (HP:0001679)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: High forehead (HP:0000348)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Micrognathia (HP:0000347)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Micrognathia (HP:0000347)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Triangular face (HP:0000325)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Triangular face (HP:0000325)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)