TaoMedAI/RareMedData huggingface dataset:
Gene: NDUFAF8
Phenotype: Microcephaly (HP:0000252)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF8
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF8
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF8
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 (OMIM:618776)
Gene: NDUFAF8
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF8
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF8
Phenotype: Strabismus (HP:0000486)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF8
Phenotype: Infantile spasms (HP:0012469)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 (OMIM:618776)
Gene: NDUFAF8
Phenotype: Ptosis (HP:0000508)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF8
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF8
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 (OMIM:618776)
Gene: LAMA1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LAMA1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)
Gene: LAMA1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome; Poretti-Boltshauser syndrome (ORPHA:370022)
Gene: LAMA1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)
Gene: LAMA1
Phenotype: Motor delay (HP:0001270)
Associated disease: PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)
Gene: LAMA1
Phenotype: Head titubation (HP:0002599)
Associated disease: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome; Poretti-Boltshauser syndrome (ORPHA:370022)
Gene: LAMA1
Phenotype: Hypotonia (HP:0001252)
Associated disease: PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)
Gene: LAMA1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome; Poretti-Boltshauser syndrome (ORPHA:370022)
Gene: LAMA1
Phenotype: Ataxia (HP:0001251)
Associated disease: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome; Poretti-Boltshauser syndrome (ORPHA:370022)
Gene: LAMA1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome; Poretti-Boltshauser syndrome (ORPHA:370022)
Gene: LAMA1
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)
Gene: LAMA1
Phenotype: Variable expressivity (HP:0003828)
Associated disease: PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)
Gene: LAMA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)
Gene: LAMA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LAMA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LAMA1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)
Gene: LAMA1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LAMA1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LAMA1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome; Poretti-Boltshauser syndrome (ORPHA:370022)
Gene: LAMA1
Phenotype: Elongated superior cerebellar peduncle (HP:0011933)
Associated disease: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome; Poretti-Boltshauser syndrome (ORPHA:370022)
Gene: LAMA1
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)
Gene: LAMA1
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome; Poretti-Boltshauser syndrome (ORPHA:370022)
Gene: LAMA1
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)
Gene: LAMA1
Phenotype: Cerebellar dysplasia (HP:0007033)
Associated disease: PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)
Gene: LAMA1
Phenotype: Cerebellar dysplasia (HP:0007033)
Associated disease: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome; Poretti-Boltshauser syndrome (ORPHA:370022)
Gene: LAMA1
Phenotype: Inferior cerebellar vermis hypoplasia (HP:0007068)
Associated disease: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome; Poretti-Boltshauser syndrome (ORPHA:370022)
Gene: LAMA1
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome; Poretti-Boltshauser syndrome (ORPHA:370022)
Gene: LAMA1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome; Poretti-Boltshauser syndrome (ORPHA:370022)
Gene: LAMA1
Phenotype: Cerebellar cyst (HP:0002350)
Associated disease: PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)
Gene: LAMA1
Phenotype: Cerebellar cyst (HP:0002350)
Associated disease: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome; Poretti-Boltshauser syndrome (ORPHA:370022)
Gene: LAMA1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LAMA1
Phenotype: Nystagmus (HP:0000639)
Associated disease: PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)
Gene: LAMA1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome; Poretti-Boltshauser syndrome (ORPHA:370022)
Gene: LAMA1
Phenotype: Amblyopia (HP:0000646)
Associated disease: PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)
Gene: LAMA1
Phenotype: Amblyopia (HP:0000646)
Associated disease: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome; Poretti-Boltshauser syndrome (ORPHA:370022)
Gene: LAMA1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LAMA1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)
Gene: LAMA1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome; Poretti-Boltshauser syndrome (ORPHA:370022)
Gene: LAMA1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)
Gene: LAMA1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome; Poretti-Boltshauser syndrome (ORPHA:370022)
Gene: LAMA1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LAMA1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LAMA1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome; Poretti-Boltshauser syndrome (ORPHA:370022)
Gene: LAMA1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LAMA1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LAMA1
Phenotype: Retinal thinning (HP:0030329)
Associated disease: PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)
Gene: LAMA1
Phenotype: Strabismus (HP:0000486)
Associated disease: PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)
Gene: LAMA1
Phenotype: Strabismus (HP:0000486)
Associated disease: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome; Poretti-Boltshauser syndrome (ORPHA:370022)
Gene: LAMA1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LAMA1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LAMA1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)
Gene: LAMA1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome; Poretti-Boltshauser syndrome (ORPHA:370022)
Gene: LAMA1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome; Poretti-Boltshauser syndrome (ORPHA:370022)
Gene: LAMA1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LAMA1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: LAMA1
Phenotype: Myopia (HP:0000545)
Associated disease: PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)
Gene: LAMA1
Phenotype: Myopia (HP:0000545)
Associated disease: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome; Poretti-Boltshauser syndrome (ORPHA:370022)
Gene: KCTD1
Phenotype: Anisocoria (HP:0009916)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Microtia (HP:0008551)
Associated disease: Finlay-Marks syndrome; Scalp-ear-nipple syndrome (ORPHA:2036)
Gene: KCTD1
Phenotype: Microtia (HP:0008551)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Finlay-Marks syndrome; Scalp-ear-nipple syndrome (ORPHA:2036)
Gene: KCTD1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Finlay-Marks syndrome; Scalp-ear-nipple syndrome (ORPHA:2036)
Gene: KCTD1
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: Finlay-Marks syndrome; Scalp-ear-nipple syndrome (ORPHA:2036)
Gene: KCTD1
Phenotype: Calvarial skull defect (HP:0001362)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Finlay-Marks syndrome; Scalp-ear-nipple syndrome (ORPHA:2036)
Gene: KCTD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Finlay-Marks syndrome; Scalp-ear-nipple syndrome (ORPHA:2036)
Gene: KCTD1
Phenotype: Agenesis of permanent teeth (HP:0006349)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Short columella (HP:0002000)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Palpebral edema (HP:0100540)
Associated disease: Finlay-Marks syndrome; Scalp-ear-nipple syndrome (ORPHA:2036)
Gene: KCTD1
Phenotype: Palpebral edema (HP:0100540)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: 3-4 finger cutaneous syndactyly (HP:0011939)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Patchy alopecia (HP:0002232)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Fine hair (HP:0002213)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Abnormal antihelix morphology (HP:0009738)
Associated disease: Finlay-Marks syndrome; Scalp-ear-nipple syndrome (ORPHA:2036)
Gene: KCTD1
Phenotype: Breast aplasia (HP:0100783)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Breast aplasia (HP:0100783)
Associated disease: Finlay-Marks syndrome; Scalp-ear-nipple syndrome (ORPHA:2036)
Gene: KCTD1
Phenotype: Aplasia cutis congenita (HP:0001057)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: Finlay-Marks syndrome; Scalp-ear-nipple syndrome (ORPHA:2036)
Gene: KCTD1
Phenotype: Thickened skin (HP:0001072)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Duplication of renal pelvis (HP:0005580)
Associated disease: Finlay-Marks syndrome; Scalp-ear-nipple syndrome (ORPHA:2036)
Gene: KCTD1
Phenotype: Abnormal scalp morphology (HP:0001965)
Associated disease: Finlay-Marks syndrome; Scalp-ear-nipple syndrome (ORPHA:2036)
Gene: KCTD1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Eyelid coloboma (HP:0000625)
Associated disease: Finlay-Marks syndrome; Scalp-ear-nipple syndrome (ORPHA:2036)
Gene: KCTD1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Finlay-Marks syndrome; Scalp-ear-nipple syndrome (ORPHA:2036)
Gene: KCTD1
Phenotype: Lower eyelid coloboma (HP:0000652)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Broad thumb (HP:0011304)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Short stature (HP:0004322)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Hypertension (HP:0000822)
Associated disease: Finlay-Marks syndrome; Scalp-ear-nipple syndrome (ORPHA:2036)
Gene: KCTD1
Phenotype: Hypertension (HP:0000822)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Anteverted ears (HP:0040080)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Dry skin (HP:0000958)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: Finlay-Marks syndrome; Scalp-ear-nipple syndrome (ORPHA:2036)
Gene: KCTD1
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Finlay-Marks syndrome; Scalp-ear-nipple syndrome (ORPHA:2036)
Gene: KCTD1
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Sparse hair (HP:0008070)
Associated disease: Finlay-Marks syndrome; Scalp-ear-nipple syndrome (ORPHA:2036)
Gene: KCTD1
Phenotype: Sparse hair (HP:0008070)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Cardiac myxoma (HP:0011672)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Epicanthus (HP:0000286)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Small earlobe (HP:0000385)
Associated disease: Finlay-Marks syndrome; Scalp-ear-nipple syndrome (ORPHA:2036)
Gene: KCTD1
Phenotype: Small earlobe (HP:0000385)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Cupped ear (HP:0000378)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Overfolded helix (HP:0000396)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Low-set ears (HP:0000369)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Pyelonephritis (HP:0012330)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Pyelonephritis (HP:0012330)
Associated disease: Finlay-Marks syndrome; Scalp-ear-nipple syndrome (ORPHA:2036)
Gene: KCTD1
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Protruding ear (HP:0000411)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Aplasia/Hypoplasia of the nipples (HP:0006709)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Aplasia/Hypoplasia of the nipples (HP:0006709)
Associated disease: Finlay-Marks syndrome; Scalp-ear-nipple syndrome (ORPHA:2036)
Gene: KCTD1
Phenotype: Underdeveloped tragus (HP:0011272)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Underdeveloped tragus (HP:0011272)
Associated disease: Finlay-Marks syndrome; Scalp-ear-nipple syndrome (ORPHA:2036)
Gene: KCTD1
Phenotype: Cataract (HP:0000518)
Associated disease: Finlay-Marks syndrome; Scalp-ear-nipple syndrome (ORPHA:2036)
Gene: KCTD1
Phenotype: Cataract (HP:0000518)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Telecanthus (HP:0000506)
Associated disease: Finlay-Marks syndrome; Scalp-ear-nipple syndrome (ORPHA:2036)
Gene: KCTD1
Phenotype: Telecanthus (HP:0000506)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Underdeveloped antitragus (HP:0011251)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: KCTD1
Phenotype: Underdeveloped antitragus (HP:0011251)
Associated disease: Finlay-Marks syndrome; Scalp-ear-nipple syndrome (ORPHA:2036)
Gene: KCTD1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: SCALP-EAR-NIPPLE SYNDROME (OMIM:181270)
Gene: EMC10
Phenotype: Fetal distress (HP:0025116)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES (OMIM:619264)
Gene: EMC10
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES (OMIM:619264)
Gene: EMC10
Phenotype: Dysarthria (HP:0001260)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES (OMIM:619264)
Gene: EMC10
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES (OMIM:619264)
Gene: EMC10
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES (OMIM:619264)
Gene: EMC10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES (OMIM:619264)
Gene: EMC10
Phenotype: Frontal bossing (HP:0002007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES (OMIM:619264)
Gene: EMC10
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES (OMIM:619264)
Gene: EMC10
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES (OMIM:619264)
Gene: EMC10
Phenotype: Hirsutism (HP:0001007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES (OMIM:619264)
Gene: EMC10
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES (OMIM:619264)
Gene: EMC10
Phenotype: Dental crowding (HP:0000678)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES (OMIM:619264)
Gene: EMC10
Phenotype: Synophrys (HP:0000664)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES (OMIM:619264)
Gene: EMC10
Phenotype: Diminished ability to concentrate (HP:0031987)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES (OMIM:619264)
Gene: EMC10
Phenotype: Tics (HP:0100033)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES (OMIM:619264)
Gene: EMC10
Phenotype: Anxiety (HP:0000739)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES (OMIM:619264)