TaoMedAI/RareMedData huggingface dataset:
Gene: PGM2L1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Abnormal circulating acylcarnitine concentration (HP:0012071)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Elbow hypertrichosis (HP:0004780)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Pica (HP:0011856)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Large earlobe (HP:0009748)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Underdeveloped nasolabial fold (HP:0010801)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Organic aciduria (HP:0001992)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Carious teeth (HP:0000670)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Abnormal isoelectric focusing of serum transferrin (HP:0003160)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Dry skin (HP:0000958)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Obesity (HP:0001513)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Overfolded helix (HP:0000396)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Long philtrum (HP:0000343)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Pointed chin (HP:0000307)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Prominent nasal tip (HP:0005274)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Prominent nose (HP:0000448)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Protruding ear (HP:0000411)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Long eyelashes (HP:0000527)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Exotropia (HP:0000577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: PGM2L1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES (OMIM:620191)
Gene: OTOGL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 84B (OMIM:614944)
Gene: OTOGL
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 84B (OMIM:614944)
Gene: OTOGL
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 84B (OMIM:614944)
Gene: OTOGL
Phenotype: Vestibular hyporeflexia (HP:0001756)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 84B (OMIM:614944)
Gene: SLC39A5
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC39A5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC39A5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPIA 24, AUTOSOMAL DOMINANT (OMIM:615946)
Gene: SLC39A5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC39A5
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC39A5
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC39A5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC39A5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MYOPIA 24, AUTOSOMAL DOMINANT (OMIM:615946)
Gene: SLC39A5
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC39A5
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC39A5
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC39A5
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC39A5
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC39A5
Phenotype: High myopia (HP:0011003)
Associated disease: MYOPIA 24, AUTOSOMAL DOMINANT (OMIM:615946)
Gene: SLC39A5
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC39A5
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC39A5
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC39A5
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DPY19L2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 9 (OMIM:613958)
Gene: DPY19L2
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 9 (OMIM:613958)
Gene: DPY19L2
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 9 (OMIM:613958)
Gene: DPY19L2
Phenotype: Globozoospermia (HP:0012205)
Associated disease: SPERMATOGENIC FAILURE 9 (OMIM:613958)
Gene: MYO1H
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION (OMIM:619482)
Gene: MYO1H
Phenotype: Areflexia (HP:0001284)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION (OMIM:619482)
Gene: MYO1H
Phenotype: Seizure (HP:0001250)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: MYO1H
Phenotype: Seizure (HP:0001250)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION (OMIM:619482)
Gene: MYO1H
Phenotype: Hypotonia (HP:0001252)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: MYO1H
Phenotype: Hypotonia (HP:0001252)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION (OMIM:619482)
Gene: MYO1H
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION (OMIM:619482)
Gene: MYO1H
Phenotype: Achalasia (HP:0002571)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION (OMIM:619482)
Gene: MYO1H
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION (OMIM:619482)
Gene: MYO1H
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION (OMIM:619482)
Gene: MYO1H
Phenotype: Scoliosis (HP:0002650)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION (OMIM:619482)
Gene: MYO1H
Phenotype: Hypoventilation (HP:0002791)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION (OMIM:619482)
Gene: MYO1H
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION (OMIM:619482)
Gene: MYO1H
Phenotype: Dysphagia (HP:0002015)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION (OMIM:619482)
Gene: MYO1H
Phenotype: Temperature instability (HP:0005968)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION (OMIM:619482)
Gene: MYO1H
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: MYO1H
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: MYO1H
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION (OMIM:619482)
Gene: MYO1H
Phenotype: Apnea (HP:0002104)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION (OMIM:619482)
Gene: MYO1H
Phenotype: Abnormality of the autonomic nervous system (HP:0002270)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: MYO1H
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: MYO1H
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION (OMIM:619482)
Gene: MYO1H
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION (OMIM:619482)
Gene: MYO1H
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION (OMIM:619482)
Gene: MYO1H
Phenotype: Ineffective esophageal peristalsis (HP:0031857)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION (OMIM:619482)
Gene: MYO1H
Phenotype: Ganglioneuroma (HP:0003005)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: MYO1H
Phenotype: Neuroblastoma (HP:0003006)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: MYO1H
Phenotype: Neoplasm of the central nervous system (HP:0100006)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: MYO1H
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION (OMIM:619482)
Gene: MYO1H
Phenotype: Small intestinal dysmotility (HP:0012850)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION (OMIM:619482)
Gene: MYO1H
Phenotype: Hypopnea (HP:0040213)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION (OMIM:619482)
Gene: MYO1H
Phenotype: Kyphosis (HP:0002808)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION (OMIM:619482)
Gene: MYO1H
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION (OMIM:619482)
Gene: MYO1H
Phenotype: Astigmatism (HP:0000483)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION (OMIM:619482)
Gene: MYO1H
Phenotype: Strabismus (HP:0000486)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION (OMIM:619482)
Gene: MYO1H
Phenotype: Chronic constipation (HP:0012450)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION (OMIM:619482)
Gene: MYO1H
Phenotype: Ganglioneuroblastoma (HP:0006747)
Associated disease: Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome; Congenital central hypoventilation syndrome; CCHS (ORPHA:661)
Gene: MYO1H
Phenotype: Myopia (HP:0000545)
Associated disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION (OMIM:619482)
Gene: HECTD4
Phenotype: Tapered finger (HP:0001182)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Microtia (HP:0008551)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Narrow palate (HP:0000189)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Narrow mouth (HP:0000160)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Wide mouth (HP:0000154)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Frontal bossing (HP:0002007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Apraxia (HP:0002186)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Fine hair (HP:0002213)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Hypodontia (HP:0000668)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Synophrys (HP:0000664)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Anxiety (HP:0000739)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Autism (HP:0000717)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Short nose (HP:0003196)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Appendicular spasticity (HP:0034353)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Retrognathia (HP:0000278)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Macrocephaly (HP:0000256)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Narrow face (HP:0000275)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Overgrowth (HP:0001548)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Obesity (HP:0001513)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)
Gene: HECTD4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM (OMIM:620250)