TaoMedAI/RareMedData huggingface dataset:
Gene: STEAP3
Phenotype: Fatigue (HP:0012378)
Associated disease: Severe congenital hypochromic anemia with ringed sideroblasts; Severe congenital hypochromic sideroblastic anemia (ORPHA:300298)
Gene: STEAP3
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Severe congenital hypochromic anemia with ringed sideroblasts; Severe congenital hypochromic sideroblastic anemia (ORPHA:300298)
Gene: STEAP3
Phenotype: Elevated transferrin saturation (HP:0012463)
Associated disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 (OMIM:615234)
Gene: STEAP3
Phenotype: Decreased transferrin saturation (HP:0012464)
Associated disease: Severe congenital hypochromic anemia with ringed sideroblasts; Severe congenital hypochromic sideroblastic anemia (ORPHA:300298)
Gene: STEAP3
Phenotype: Elevated hepatic iron concentration (HP:0012465)
Associated disease: Severe congenital hypochromic anemia with ringed sideroblasts; Severe congenital hypochromic sideroblastic anemia (ORPHA:300298)
Gene: STEAP3
Phenotype: Elevated hepatic iron concentration (HP:0012465)
Associated disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 (OMIM:615234)
Gene: STEAP3
Phenotype: Splenomegaly (HP:0001744)
Associated disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 (OMIM:615234)
Gene: STEAP3
Phenotype: Reticulocytopenia (HP:0001896)
Associated disease: Severe congenital hypochromic anemia with ringed sideroblasts; Severe congenital hypochromic sideroblastic anemia (ORPHA:300298)
Gene: KIRREL1
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: NEPHROTIC SYNDROME, TYPE 23 (OMIM:619201)
Gene: KIRREL1
Phenotype: Proteinuria (HP:0000093)
Associated disease: NEPHROTIC SYNDROME, TYPE 23 (OMIM:619201)
Gene: KIRREL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHROTIC SYNDROME, TYPE 23 (OMIM:619201)
Gene: KIRREL1
Phenotype: Podocyte foot process effacement (HP:0031266)
Associated disease: NEPHROTIC SYNDROME, TYPE 23 (OMIM:619201)
Gene: KIRREL1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEPHROTIC SYNDROME, TYPE 23 (OMIM:619201)
Gene: KIRREL1
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEPHROTIC SYNDROME, TYPE 23 (OMIM:619201)
Gene: KIRREL1
Phenotype: Steroid-resistant nephrotic syndrome (HP:0012588)
Associated disease: NEPHROTIC SYNDROME, TYPE 23 (OMIM:619201)
Gene: KIRREL1
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: NEPHROTIC SYNDROME, TYPE 23 (OMIM:619201)
Gene: KIRREL1
Phenotype: Mesangial hypercellularity (HP:0012574)
Associated disease: NEPHROTIC SYNDROME, TYPE 23 (OMIM:619201)
Gene: YY1AP1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: GRANGE SYNDROME (OMIM:602531)
Gene: YY1AP1
Phenotype: Syndactyly (HP:0001159)
Associated disease: Grange occlusive arterial syndrome; Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome; Grange syndrome (ORPHA:79094)
Gene: YY1AP1
Phenotype: Syndactyly (HP:0001159)
Associated disease: GRANGE SYNDROME (OMIM:602531)
Gene: YY1AP1
Phenotype: Renovascular hypertension (HP:0100817)
Associated disease: GRANGE SYNDROME (OMIM:602531)
Gene: YY1AP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GRANGE SYNDROME (OMIM:602531)
Gene: YY1AP1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Grange occlusive arterial syndrome; Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome; Grange syndrome (ORPHA:79094)
Gene: YY1AP1
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Grange occlusive arterial syndrome; Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome; Grange syndrome (ORPHA:79094)
Gene: YY1AP1
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: GRANGE SYNDROME (OMIM:602531)
Gene: YY1AP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GRANGE SYNDROME (OMIM:602531)
Gene: YY1AP1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: GRANGE SYNDROME (OMIM:602531)
Gene: YY1AP1
Phenotype: Arterial stenosis (HP:0100545)
Associated disease: Grange occlusive arterial syndrome; Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome; Grange syndrome (ORPHA:79094)
Gene: YY1AP1
Phenotype: Carotid artery stenosis (HP:0100546)
Associated disease: GRANGE SYNDROME (OMIM:602531)
Gene: YY1AP1
Phenotype: Short palm (HP:0004279)
Associated disease: Grange occlusive arterial syndrome; Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome; Grange syndrome (ORPHA:79094)
Gene: YY1AP1
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease: Grange occlusive arterial syndrome; Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome; Grange syndrome (ORPHA:79094)
Gene: YY1AP1
Phenotype: Renal artery stenosis (HP:0001920)
Associated disease: GRANGE SYNDROME (OMIM:602531)
Gene: YY1AP1
Phenotype: Decreased body weight (HP:0004325)
Associated disease: GRANGE SYNDROME (OMIM:602531)
Gene: YY1AP1
Phenotype: Hypertension (HP:0000822)
Associated disease: Grange occlusive arterial syndrome; Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome; Grange syndrome (ORPHA:79094)
Gene: YY1AP1
Phenotype: Finger clinodactyly (HP:0040019)
Associated disease: GRANGE SYNDROME (OMIM:602531)
Gene: YY1AP1
Phenotype: Coronary artery stenosis (HP:0005145)
Associated disease: GRANGE SYNDROME (OMIM:602531)
Gene: YY1AP1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: GRANGE SYNDROME (OMIM:602531)
Gene: YY1AP1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Grange occlusive arterial syndrome; Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome; Grange syndrome (ORPHA:79094)
Gene: YY1AP1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Grange occlusive arterial syndrome; Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome; Grange syndrome (ORPHA:79094)
Gene: YY1AP1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Grange occlusive arterial syndrome; Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome; Grange syndrome (ORPHA:79094)
Gene: ELP2
Phenotype: Poor head control (HP:0002421)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 (OMIM:617270)
Gene: ELP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 (OMIM:617270)
Gene: ELP2
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 (OMIM:617270)
Gene: ELP2
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 (OMIM:617270)
Gene: ELP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 (OMIM:617270)
Gene: ELP2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 (OMIM:617270)
Gene: ELP2
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 (OMIM:617270)
Gene: ELP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 (OMIM:617270)
Gene: ELP2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 (OMIM:617270)
Gene: ELP2
Phenotype: Pica (HP:0011856)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 (OMIM:617270)
Gene: ELP2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 (OMIM:617270)
Gene: ELP2
Phenotype: Congenital onset (HP:0003577)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 (OMIM:617270)
Gene: ELP2
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 (OMIM:617270)
Gene: ELP2
Phenotype: Progressive (HP:0003676)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 (OMIM:617270)
Gene: ELP2
Phenotype: Short stature (HP:0004322)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 (OMIM:617270)
Gene: ELP2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 (OMIM:617270)
Gene: ELP2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 (OMIM:617270)
Gene: ELP2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 (OMIM:617270)
Gene: ASXL2
Phenotype: Capillary malformation (HP:0025104)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Mild fetal ventriculomegaly (HP:0010952)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Seizure (HP:0001250)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Nevus flammeus of the forehead (HP:0007413)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Scoliosis (HP:0002650)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Prominent glabella (HP:0002057)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Cervical C2/C3 vertebral fusion (HP:0004602)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Congenital onset (HP:0003577)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Synophrys (HP:0000664)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Epicanthus (HP:0000286)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Retrognathia (HP:0000278)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Long face (HP:0000276)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Kyphosis (HP:0002808)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Cupped ear (HP:0000378)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Overfolded helix (HP:0000396)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Low-set ears (HP:0000369)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Long eyelashes (HP:0000527)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Proptosis (HP:0000520)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Ptosis (HP:0000508)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: ASXL2
Phenotype: Dilation of Virchow-Robin spaces (HP:0012520)
Associated disease: SHASHI-PENA SYNDROME (OMIM:617190)
Gene: TRAPPC14
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC14
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC14
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:618351)
Gene: TRAPPC14
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:618351)
Gene: TRAPPC14
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC14
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC14
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC14
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC14
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:618351)
Gene: TRAPPC14
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC14
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC14
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:618351)
Gene: TRAPPC14
Phenotype: Filum terminale lipoma (HP:6000184)
Associated disease: MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:618351)
Gene: TRAPPC14
Phenotype: Tethered cord (HP:0002144)
Associated disease: MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:618351)
Gene: TRAPPC14
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC14
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:618351)
Gene: TRAPPC14
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC14
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:618351)
Gene: TRAPPC14
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC14
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:618351)
Gene: TRAPPC14
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:618351)
Gene: TRAPPC14
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC14
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC14
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC14
Phenotype: Growth delay (HP:0001510)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC14
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: TRAPPC14
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: VPS53
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Hypertonia (HP:0001276)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Spasticity (HP:0001257)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Facial telangiectasia (HP:0007380)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Flexion contracture (HP:0001371)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Myoclonus (HP:0001336)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Scoliosis (HP:0002650)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Opisthotonus (HP:0002179)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Infantile onset (HP:0003593)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Large earlobe (HP:0009748)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Progressive (HP:0003676)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Optic atrophy (HP:0000648)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Short stature (HP:0004322)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Irritability (HP:0000737)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Short nose (HP:0003196)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Epicanthus (HP:0000286)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Microcephaly (HP:0000252)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Narrow forehead (HP:0000341)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Tonic seizure (HP:0032792)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Micrognathia (HP:0000347)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Strabismus (HP:0000486)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Infantile spasms (HP:0012469)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Wide nose (HP:0000445)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: VPS53
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Gene: QRSL1
Phenotype: Neonatal death (HP:0003811)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 (OMIM:618835)
Gene: QRSL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 (OMIM:618835)
Gene: QRSL1
Phenotype: Decreased liver function (HP:0001410)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 (OMIM:618835)
Gene: QRSL1
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 (OMIM:618835)