TaoMedAI/RareMedData huggingface dataset:
Gene: NGLY1
Phenotype: Absent speech (HP:0001344)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Coxa valga (HP:0002673)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Myoclonus (HP:0001336)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Myoclonus (HP:0001336)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Dysmetria (HP:0001310)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Scoliosis (HP:0002650)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Open mouth (HP:0000194)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: High myoinositol in brain by MRS (HP:0025460)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Hypotriglyceridemia (HP:0012153)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Decreased CSF albumin concentration (HP:0025458)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Decreased CSF albumin concentration (HP:0025458)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Decreased CSF protein concentration (HP:0025457)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Decreased CSF 5-hydroxyindolacetic acid concentration (HP:0025455)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Decreased CSF 5-hydroxyindolacetic acid concentration (HP:0025455)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Staring gaze (HP:0025401)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Microvesicular hepatic steatosis (HP:0001414)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Micronodular cirrhosis (HP:0001413)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Decreased CSF/serum albumin ratio (HP:0030978)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Reduced brain glutamine level by MRS (HP:0030980)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Suck reflex (HP:0030906)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Suck reflex (HP:0030906)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Chorea (HP:0002072)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Chorea (HP:0002072)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Decreased sensory nerve conduction velocity (HP:0003448)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Axonal loss (HP:0003447)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Heparan sulfate excretion in urine (HP:0002159)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Gliosis (HP:0002171)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Gliosis (HP:0002171)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Decreased LDL cholesterol concentration (HP:0003563)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Nodular regenerative hyperplasia of liver (HP:0011954)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Astasia (HP:0020037)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Developmental regression (HP:0002376)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Action tremor (HP:0002345)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Action tremor (HP:0002345)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Focal emotional seizure with laughing (HP:0010821)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Small hand (HP:0200055)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Athetosis (HP:0002305)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Athetosis (HP:0002305)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Reduced protein C activity (HP:0005543)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Decreased lacrimation (HP:0000633)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Fever (HP:0001945)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Reduced factor XI activity (HP:0001929)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Decreased body weight (HP:0004325)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Involuntary movements (HP:0004305)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Acromesomelia (HP:0003086)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Elevated brain choline level by MRS (HP:0012706)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Reduced brain N-acetyl aspartate level by MRS (HP:0012708)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Restlessness (HP:0000711)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Corneal neovascularization (HP:0011496)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Limb joint contracture (HP:0003121)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Decreased CSF biopterin level (HP:0040209)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Anhidrosis (HP:0000970)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Motor regression (HP:0033044)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Narrow face (HP:0000275)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Lagophthalmos (HP:0030001)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Fatigable weakness of speech muscles (HP:0030194)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Generalized aminoaciduria (HP:0002909)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Decreased resting energy expenditure (HP:0012340)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Low-set ears (HP:0000369)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Small forehead (HP:0000350)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Pointed chin (HP:0000307)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Strabismus (HP:0000486)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Chronic constipation (HP:0012450)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Short foot (HP:0001773)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Alacrima (HP:0000522)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Alacrima (HP:0000522)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Ptosis (HP:0000508)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Exotropia (HP:0000577)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Corneal scarring (HP:0000559)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Pain (HP:0012531)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Dilation of Virchow-Robin spaces (HP:0012520)
Associated disease: CONGENITAL DISORDER OF DEGLYCOSYLATION (OMIM:615273)
Gene: NGLY1
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: NGLY1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: NGLY1 deficiency; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1-CDDG (ORPHA:404454)
Gene: EXOC2
Phenotype: Simple ear (HP:0020206)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Bitemporal hollowing (HP:0025386)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Fusion of the left and right thalami (HP:0010664)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Rhombencephalosynapsis (HP:0031913)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Central nervous system cyst (HP:0030724)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Dry skin (HP:0000958)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)
Gene: EXOC2
Phenotype: Optic disc hypoplasia (HP:0007766)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA (OMIM:619306)