TaoMedAI/RareMedData huggingface dataset:
Gene: UQCC2
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Vomiting (HP:0002013)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Proximal renal tubular acidosis (HP:0002049)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Decreased activity of mitochondrial complex II (HP:0008314)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Congenital lactic acidosis (HP:0004902)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Synophrys (HP:0000664)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Epicanthus (HP:0000286)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Breech presentation (HP:0001623)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: UQCC2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Gene: TMEM107
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: OROFACIODIGITAL SYNDROME XVI (OMIM:617563)
Gene: TMEM107
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: OROFACIODIGITAL SYNDROME XVI (OMIM:617563)
Gene: TMEM107
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: OROFACIODIGITAL SYNDROME XVI (OMIM:617563)
Gene: TMEM107
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: MECKEL SYNDROME 13 (OMIM:617562)
Gene: TMEM107
Phenotype: Motor delay (HP:0001270)
Associated disease: OROFACIODIGITAL SYNDROME XVI (OMIM:617563)
Gene: TMEM107
Phenotype: Hypotonia (HP:0001252)
Associated disease: OROFACIODIGITAL SYNDROME XVI (OMIM:617563)
Gene: TMEM107
Phenotype: Ataxia (HP:0001251)
Associated disease: OROFACIODIGITAL SYNDROME XVI (OMIM:617563)
Gene: TMEM107
Phenotype: Ataxia (HP:0001251)
Associated disease: MECKEL SYNDROME 13 (OMIM:617562)
Gene: TMEM107
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MECKEL SYNDROME 13 (OMIM:617562)
Gene: TMEM107
Phenotype: Global developmental delay (HP:0001263)
Associated disease: OROFACIODIGITAL SYNDROME XVI (OMIM:617563)
Gene: TMEM107
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MECKEL SYNDROME 13 (OMIM:617562)
Gene: TMEM107
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Inability to walk (HP:0002540)
Associated disease: OROFACIODIGITAL SYNDROME XVI (OMIM:617563)
Gene: TMEM107
Phenotype: Urethral atresia (HP:0000068)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MECKEL SYNDROME 13 (OMIM:617562)
Gene: TMEM107
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: OROFACIODIGITAL SYNDROME XVI (OMIM:617563)
Gene: TMEM107
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OROFACIODIGITAL SYNDROME XVI (OMIM:617563)
Gene: TMEM107
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MECKEL SYNDROME 13 (OMIM:617562)
Gene: TMEM107
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MECKEL SYNDROME 13 (OMIM:617562)
Gene: TMEM107
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Cleft palate (HP:0000175)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: MECKEL SYNDROME 13 (OMIM:617562)
Gene: TMEM107
Phenotype: Hamartoma of tongue (HP:0011802)
Associated disease: OROFACIODIGITAL SYNDROME XVI (OMIM:617563)
Gene: TMEM107
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: MECKEL SYNDROME 13 (OMIM:617562)
Gene: TMEM107
Phenotype: Encephalocele (HP:0002084)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: True hermaphroditism (HP:0010459)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: OROFACIODIGITAL SYNDROME XVI (OMIM:617563)
Gene: TMEM107
Phenotype: Apnea (HP:0002104)
Associated disease: OROFACIODIGITAL SYNDROME XVI (OMIM:617563)
Gene: TMEM107
Phenotype: Congenital onset (HP:0003577)
Associated disease: OROFACIODIGITAL SYNDROME XVI (OMIM:617563)
Gene: TMEM107
Phenotype: Pancreatic fibrosis (HP:0100732)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: OROFACIODIGITAL SYNDROME XVI (OMIM:617563)
Gene: TMEM107
Phenotype: Anencephaly (HP:0002323)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Lobar holoprosencephaly (HP:0006870)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Sclerocornea (HP:0000647)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: OROFACIODIGITAL SYNDROME XVI (OMIM:617563)
Gene: TMEM107
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: MECKEL SYNDROME 13 (OMIM:617562)
Gene: TMEM107
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: OROFACIODIGITAL SYNDROME XVI (OMIM:617563)
Gene: TMEM107
Phenotype: Aplasia/Hypoplasia of the tongue (HP:0010295)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Retrognathia (HP:0000278)
Associated disease: OROFACIODIGITAL SYNDROME XVI (OMIM:617563)
Gene: TMEM107
Phenotype: Full cheeks (HP:0000293)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Microcephaly (HP:0000252)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Low-set ears (HP:0000369)
Associated disease: OROFACIODIGITAL SYNDROME XVI (OMIM:617563)
Gene: TMEM107
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Micrognathia (HP:0000347)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Micrognathia (HP:0000347)
Associated disease: MECKEL SYNDROME 13 (OMIM:617562)
Gene: TMEM107
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: OROFACIODIGITAL SYNDROME XVI (OMIM:617563)
Gene: TMEM107
Phenotype: Microcornea (HP:0000482)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Retinopathy (HP:0000488)
Associated disease: OROFACIODIGITAL SYNDROME XVI (OMIM:617563)
Gene: TMEM107
Phenotype: Retinopathy (HP:0000488)
Associated disease: MECKEL SYNDROME 13 (OMIM:617562)
Gene: TMEM107
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Asplenia (HP:0001746)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Accessory spleen (HP:0001747)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Cystic liver disease (HP:0006706)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Cataract (HP:0000518)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Ptosis (HP:0000508)
Associated disease: OROFACIODIGITAL SYNDROME XVI (OMIM:617563)
Gene: TMEM107
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: OROFACIODIGITAL SYNDROME XVI (OMIM:617563)
Gene: TMEM107
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Abnormal chorioretinal morphology (HP:0000532)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM107
Phenotype: Talipes (HP:0001883)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: VMA22
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
Gene: VMA22
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
Gene: VMA22
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
Gene: VMA22
Phenotype: Hepatic failure (HP:0001399)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
Gene: VMA22
Phenotype: Cirrhosis (HP:0001394)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
Gene: VMA22
Phenotype: Copper accumulation in liver (HP:0025321)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
Gene: VMA22
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
Gene: VMA22
Phenotype: Cholestatic liver disease (HP:0002611)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
Gene: VMA22
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
Gene: VMA22
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
Gene: VMA22
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
Gene: VMA22
Phenotype: Elevated alkaline phosphatase of bone origin (HP:0010639)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
Gene: VMA22
Phenotype: Decreased circulating ceruloplasmin concentration (HP:0010837)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
Gene: VMA22
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
Gene: VMA22
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
Gene: VMA22
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
Gene: VMA22
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
Gene: VMA22
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
Gene: VMA22
Phenotype: Long face (HP:0000276)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
Gene: VMA22
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
Gene: VMA22
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
Gene: VMA22
Phenotype: Abnormal glycosylation (HP:0012345)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
Gene: VMA22
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
Gene: VMA22
Phenotype: Splenomegaly (HP:0001744)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
Gene: VMA22
Phenotype: Ptosis (HP:0000508)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo (OMIM:616828)
Gene: ACBD6
Phenotype: Tapered finger (HP:0001182)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Frequent temper tantrums (HP:0025161)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Polyphagia (HP:0002591)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Cirrhosis (HP:0001394)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Upgaze palsy (HP:0025331)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Hypospadias (HP:0000047)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Tremor (HP:0001337)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Parkinsonism (HP:0001300)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Cleft palate (HP:0000175)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Stooped posture (HP:0025403)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Gene: ACBD6
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)