TaoMedAI/RareMedData huggingface dataset:
Gene: MRPL12
Phenotype: Tremor (HP:0001337)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45 (OMIM:618951)
Gene: MRPL12
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45 (OMIM:618951)
Gene: MRPL12
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45 (OMIM:618951)
Gene: MRPL12
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45 (OMIM:618951)
Gene: MRPL12
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45 (OMIM:618951)
Gene: MRPL12
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45 (OMIM:618951)
Gene: MRPL12
Phenotype: Epicanthus (HP:0000286)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45 (OMIM:618951)
Gene: MRPL12
Phenotype: High palate (HP:0000218)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45 (OMIM:618951)
Gene: MRPL12
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45 (OMIM:618951)
Gene: MRPL12
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45 (OMIM:618951)
Gene: MRPL12
Phenotype: Low-set ears (HP:0000369)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45 (OMIM:618951)
Gene: MRPL12
Phenotype: Round face (HP:0000311)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45 (OMIM:618951)
Gene: MRPL12
Phenotype: Short neck (HP:0000470)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45 (OMIM:618951)
Gene: RPS6KA3
Phenotype: Large hands (HP:0001176)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Large hands (HP:0001176)
Associated disease: Symptomatic form of Coffin-Lowry syndrome in female carriers (ORPHA:276630)
Gene: RPS6KA3
Phenotype: Broad palm (HP:0001169)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Hyperextensibility of the finger joints (HP:0001187)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Tapered finger (HP:0001182)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Tapered finger (HP:0001182)
Associated disease: Symptomatic form of Coffin-Lowry syndrome in female carriers (ORPHA:276630)
Gene: RPS6KA3
Phenotype: Tapered finger (HP:0001182)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: Symptomatic form of Coffin-Lowry syndrome in female carriers (ORPHA:276630)
Gene: RPS6KA3
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Sporadic (HP:0003745)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Hypertonia (HP:0001276)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Motor delay (HP:0001270)
Associated disease: MENTAL RETARDATION, X-LINKED 19 (OMIM:300844)
Gene: RPS6KA3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MENTAL RETARDATION, X-LINKED 19 (OMIM:300844)
Gene: RPS6KA3
Phenotype: Seizure (HP:0001250)
Associated disease: Symptomatic form of Coffin-Lowry syndrome in female carriers (ORPHA:276630)
Gene: RPS6KA3
Phenotype: Seizure (HP:0001250)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Seizure (HP:0001250)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, X-LINKED 19 (OMIM:300844)
Gene: RPS6KA3
Phenotype: Hypotonia (HP:0001252)
Associated disease: Symptomatic form of Coffin-Lowry syndrome in female carriers (ORPHA:276630)
Gene: RPS6KA3
Phenotype: Hypotonia (HP:0001252)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Hypotonia (HP:0001252)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED 19 (OMIM:300844)
Gene: RPS6KA3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Drumstick terminal phalanges (HP:0006129)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Coxa valga (HP:0002673)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Scoliosis (HP:0002650)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Scoliosis (HP:0002650)
Associated disease: MENTAL RETARDATION, X-LINKED 19 (OMIM:300844)
Gene: RPS6KA3
Phenotype: Scoliosis (HP:0002650)
Associated disease: Symptomatic form of Coffin-Lowry syndrome in female carriers (ORPHA:276630)
Gene: RPS6KA3
Phenotype: Narrow palate (HP:0000189)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Narrow palate (HP:0000189)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: MENTAL RETARDATION, X-LINKED 19 (OMIM:300844)
Gene: RPS6KA3
Phenotype: Open mouth (HP:0000194)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Open mouth (HP:0000194)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Delayed closure of the anterior fontanelle (HP:0001476)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Uterine prolapse (HP:0000139)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Wide mouth (HP:0000154)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Advanced eruption of teeth (HP:0006288)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: MENTAL RETARDATION, X-LINKED 19 (OMIM:300844)
Gene: RPS6KA3
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: MENTAL RETARDATION, X-LINKED 19 (OMIM:300844)
Gene: RPS6KA3
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: MENTAL RETARDATION, X-LINKED 19 (OMIM:300844)
Gene: RPS6KA3
Phenotype: Exaggerated median tongue furrow (HP:0002711)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Symptomatic form of Coffin-Lowry syndrome in female carriers (ORPHA:276630)
Gene: RPS6KA3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Progressive spasticity (HP:0002191)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Sleep apnea (HP:0010535)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Infantile onset (HP:0003593)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Coarse hair (HP:0002208)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Thick nasal septum (HP:0009746)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Thoracic lordosis (HP:0430043)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Acrocyanosis (HP:0001063)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Atonic seizure (HP:0010819)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Broad columella (HP:0010761)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Lumbar kyphosis (HP:0008454)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Dental crowding (HP:0000678)
Associated disease: MENTAL RETARDATION, X-LINKED 19 (OMIM:300844)
Gene: RPS6KA3
Phenotype: Anodontia (HP:0000674)
Associated disease: Symptomatic form of Coffin-Lowry syndrome in female carriers (ORPHA:276630)
Gene: RPS6KA3
Phenotype: Oligodontia (HP:0000677)
Associated disease: Symptomatic form of Coffin-Lowry syndrome in female carriers (ORPHA:276630)
Gene: RPS6KA3
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Hypodontia (HP:0000668)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Hypodontia (HP:0000668)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Decreased body weight (HP:0004325)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Short stature (HP:0004322)
Associated disease: Symptomatic form of Coffin-Lowry syndrome in female carriers (ORPHA:276630)
Gene: RPS6KA3
Phenotype: Short stature (HP:0004322)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Short stature (HP:0004322)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Symptomatic form of Coffin-Lowry syndrome in female carriers (ORPHA:276630)
Gene: RPS6KA3
Phenotype: Metacarpal pseudoepiphysis (HP:0009193)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Symptomatic form of Coffin-Lowry syndrome in female carriers (ORPHA:276630)
Gene: RPS6KA3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Symptomatic form of Coffin-Lowry syndrome in female carriers (ORPHA:276630)
Gene: RPS6KA3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, X-LINKED 19 (OMIM:300844)
Gene: RPS6KA3
Phenotype: Depression (HP:0000716)
Associated disease: Symptomatic form of Coffin-Lowry syndrome in female carriers (ORPHA:276630)
Gene: RPS6KA3
Phenotype: Psychosis (HP:0000709)
Associated disease: Symptomatic form of Coffin-Lowry syndrome in female carriers (ORPHA:276630)
Gene: RPS6KA3
Phenotype: Atypical behavior (HP:0000708)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Short nose (HP:0003196)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Craniofacial hyperostosis (HP:0004493)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Short chordae tendineae of the mitral valve (HP:0011580)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Bifid sternum (HP:0010309)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Cutis laxa (HP:0000973)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Abnormal diaphysis morphology (HP:0000940)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Epicanthus (HP:0000286)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Kyphosis (HP:0002808)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Kyphosis (HP:0002808)
Associated disease: Symptomatic form of Coffin-Lowry syndrome in female carriers (ORPHA:276630)
Gene: RPS6KA3
Phenotype: Kyphosis (HP:0002808)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Microcephaly (HP:0000252)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Microcephaly (HP:0000252)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Redundant skin (HP:0001582)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: High palate (HP:0000218)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: High palate (HP:0000218)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Symptomatic form of Coffin-Lowry syndrome in female carriers (ORPHA:276630)
Gene: RPS6KA3
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: MENTAL RETARDATION, X-LINKED 19 (OMIM:300844)
Gene: RPS6KA3
Phenotype: Narrow iliac wing (HP:0002868)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Narrow iliac wing (HP:0002868)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Broad finger (HP:0001500)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MENTAL RETARDATION, X-LINKED 19 (OMIM:300844)
Gene: RPS6KA3
Phenotype: Obesity (HP:0001513)
Associated disease: Symptomatic form of Coffin-Lowry syndrome in female carriers (ORPHA:276630)
Gene: RPS6KA3
Phenotype: Conical incisor (HP:0011065)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Symptomatic form of Coffin-Lowry syndrome in female carriers (ORPHA:276630)
Gene: RPS6KA3
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Abnormal mitral valve morphology (HP:0001633)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Short chordae tendineae of the tricuspid valve (HP:0006692)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Abnormal tricuspid valve morphology (HP:0001702)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Strabismus (HP:0000486)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Symptomatic form of Coffin-Lowry syndrome in female carriers (ORPHA:276630)
Gene: RPS6KA3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: MENTAL RETARDATION, X-LINKED 19 (OMIM:300844)
Gene: RPS6KA3
Phenotype: Pes planus (HP:0001763)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Pes planus (HP:0001763)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Wide nose (HP:0000445)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Wide nose (HP:0000445)
Associated disease: Symptomatic form of Coffin-Lowry syndrome in female carriers (ORPHA:276630)
Gene: RPS6KA3
Phenotype: Wide nose (HP:0000445)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Protruding ear (HP:0000411)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Protruding ear (HP:0000411)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Cataract (HP:0000518)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Telecanthus (HP:0000506)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Long foot (HP:0001833)
Associated disease: MENTAL RETARDATION, X-LINKED 19 (OMIM:300844)
Gene: RPS6KA3
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Hyperconvex fingernails (HP:0001812)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Hyperconvex fingernails (HP:0001812)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS6KA3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: CLS; Coffin-Lowry syndrome (ORPHA:192)
Gene: RPS6KA3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MENTAL RETARDATION, X-LINKED 19 (OMIM:300844)
Gene: RPS6KA3
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: COFFIN-LOWRY SYNDROME (OMIM:303600)
Gene: RPS7
Phenotype: Partial duplication of thumb phalanx (HP:0009944)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS7
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: RPS7
Phenotype: Microtia (HP:0008551)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)