Multiple congenital anomalies-hypotonia-seizures syndrome 2
- Synonyms
- EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 20; GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 4
- Modes of inheritance
- X-linked recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (50 available)
Clinical features
Help- Abnormal cellular phenotype
- Abnormality of the mitochondrion
Abnormality of the mitochondrion
- MedGen UID: 892403
- Concept ID: C4023042
- Finding: Anatomical Abnormality
Abnormal cellular phenotype
- Abnormality of the mitochondrion
- Abnormality of blood and blood-forming tissues
- Stomatocytosis
Stomatocytosis
- MedGen UID: 760280
- Concept ID: C0677598
- Finding: Laboratory or Test Result
Abnormality of blood and blood-forming tissues
- Thrombocytopenia
Thrombocytopenia
- MedGen UID: 52737
- Concept ID: C0040034
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Stomatocytosis
- Abnormality of head or neck
- Abnormality of the face
Abnormality of the face
- MedGen UID: 871375
- Concept ID: C4025871
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Abnormality of the glabella
Abnormality of the glabella
- MedGen UID: 867395
- Concept ID: C4021763
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Abnormality of the philtrum
Abnormality of the philtrum
- MedGen UID: 384043
- Concept ID: C1857045
- Finding: Finding
Abnormality of head or neck
- Abnormality of the supraorbital ridges
Abnormality of the supraorbital ridges
- MedGen UID: 867638
- Concept ID: C4022027
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Agenesis of permanent teeth
Agenesis of permanent teeth
- MedGen UID: 224851
- Concept ID: C1290511
- Finding: Congenital Abnormality
Abnormality of head or neck
- Alveolar ridge overgrowth
Alveolar ridge overgrowth
- MedGen UID: 400802
- Concept ID: C1865598
- Finding: Finding
Abnormality of head or neck
- Anodontia
Anodontia
- MedGen UID: 98313
- Concept ID: C0399352
- Finding: Congenital Abnormality
Abnormality of head or neck
- Anteverted nares
Anteverted nares
- MedGen UID: 326648
- Concept ID: C1840077
- Finding: Finding
Abnormality of head or neck
- Broad forehead
Broad forehead
- MedGen UID: 338610
- Concept ID: C1849089
- Finding: Finding
Abnormality of head or neck
- Coarse facial features
Coarse facial features
- MedGen UID: 335284
- Concept ID: C1845847
- Finding: Finding
Abnormality of head or neck
- Decreased facial expression
Decreased facial expression
- MedGen UID: 350680
- Concept ID: C1862474
- Finding: Finding
Abnormality of head or neck
- Delayed eruption of teeth
Delayed eruption of teeth
- MedGen UID: 68678
- Concept ID: C0239174
- Finding: Finding
Abnormality of head or neck
- Depressed nasal bridge
Depressed nasal bridge
- MedGen UID: 373112
- Concept ID: C1836542
- Finding: Finding
Abnormality of head or neck
- Downturned corners of mouth
Downturned corners of mouth
- MedGen UID: 356471
- Concept ID: C1866195
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Facial asymmetry
Facial asymmetry
- MedGen UID: 266298
- Concept ID: C1306710
- Finding: Finding
Abnormality of head or neck
- Gingival overgrowth
Gingival overgrowth
- MedGen UID: 87712
- Concept ID: C0376480
- Finding: Finding
Abnormality of head or neck
- High anterior hairline
High anterior hairline
- MedGen UID: 477667
- Concept ID: C3276036
- Finding: Finding
Abnormality of head or neck
- High palate
High palate
- MedGen UID: 66814
- Concept ID: C0240635
- Finding: Congenital Abnormality
Abnormality of head or neck
- High, narrow palate
High, narrow palate
- MedGen UID: 324787
- Concept ID: C1837404
- Finding: Finding
Abnormality of head or neck
- Isolated Pierre-Robin syndrome
Isolated Pierre-Robin syndrome
- MedGen UID: 19310
- Concept ID: C0031900
- Finding: Congenital Abnormality
Abnormality of head or neck
- Long palpebral fissure
Long palpebral fissure
- MedGen UID: 340300
- Concept ID: C1849340
- Finding: Finding
Abnormality of head or neck
- Microdontia
Microdontia
- MedGen UID: 66008
- Concept ID: C0240340
- Finding: Congenital Abnormality
Abnormality of head or neck
- Narrow mouth
Narrow mouth
- MedGen UID: 44435
- Concept ID: C0026034
- Finding: Congenital Abnormality
Abnormality of head or neck
- Redundant neck skin
Redundant neck skin
- MedGen UID: 374440
- Concept ID: C1840319
- Finding: Finding
Abnormality of head or neck
- Round face
Round face
- MedGen UID: 116087
- Concept ID: C0239479
- Finding: Finding
Abnormality of head or neck
- Short neck
Short neck
- MedGen UID: 99267
- Concept ID: C0521525
- Finding: Finding
Abnormality of head or neck
- Short palpebral fissure
Short palpebral fissure
- MedGen UID: 98067
- Concept ID: C0423112
- Finding: Finding
Abnormality of head or neck
- Thin vermilion border
Thin vermilion border
- MedGen UID: 108294
- Concept ID: C0578038
- Finding: Finding
Abnormality of head or neck
- Triangular mouth
Triangular mouth
- MedGen UID: 336578
- Concept ID: C1849341
- Finding: Finding
Abnormality of head or neck
- Upslanted palpebral fissure
Upslanted palpebral fissure
- MedGen UID: 98390
- Concept ID: C0423109
- Finding: Finding
Abnormality of head or neck
- Widely spaced teeth
Widely spaced teeth
- MedGen UID: 337093
- Concept ID: C1844813
- Finding: Finding
Abnormality of head or neck
- Abnormality of the face
- Abnormality of limbs
- Abnormal foot morphology
Abnormal foot morphology
- MedGen UID: 1762829
- Concept ID: C5399834
- Finding: Anatomical Abnormality
Abnormality of limbs
- Broad palm
Broad palm
- MedGen UID: 75535
- Concept ID: C0264142
- Finding: Congenital Abnormality
Abnormality of limbs
- Deep palmar crease
Deep palmar crease
- MedGen UID: 387849
- Concept ID: C1857539
- Finding: Finding
Abnormality of limbs
- Knee flexion contracture
Knee flexion contracture
- MedGen UID: 98042
- Concept ID: C0409355
- Finding: Finding
Abnormality of limbs
- Short finger
Short finger
- MedGen UID: 334977
- Concept ID: C1844548
- Finding: Anatomical Abnormality
Abnormality of limbs
- Tapered finger
Tapered finger
- MedGen UID: 98098
- Concept ID: C0426886
- Finding: Finding
Abnormality of limbs
- Abnormal foot morphology
- Abnormality of metabolism/homeostasis
- Abnormal circulating iron concentration
Abnormal circulating iron concentration
- MedGen UID: 808235
- Concept ID: C0235760
- Finding: Finding
Abnormality of metabolism/homeostasis
- Edema
Edema
- MedGen UID: 4451
- Concept ID: C0013604
- Finding: Pathologic Function
Abnormality of metabolism/homeostasis
- Elevated circulating alkaline phosphatase concentration
Elevated circulating alkaline phosphatase concentration
- MedGen UID: 727252
- Concept ID: C1314665
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased circulating ferritin concentration
Increased circulating ferritin concentration
- MedGen UID: 69130
- Concept ID: C0241013
- Finding: Finding
Abnormality of metabolism/homeostasis
- Abnormal circulating iron concentration
- Abnormality of prenatal development or birth
- Bilateral fetal pyelectasis
Bilateral fetal pyelectasis
- MedGen UID: 869105
- Concept ID: C4023523
- Finding: Disease or Syndrome
Abnormality of prenatal development or birth
- Breech presentation
Breech presentation
- MedGen UID: 654
- Concept ID: C0006157
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Fetal distress
Fetal distress
- MedGen UID: 5164
- Concept ID: C0015930
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Hydrops fetalis
Hydrops fetalis
- MedGen UID: 6947
- Concept ID: C0020305
- Finding: Disease or Syndrome
Abnormality of prenatal development or birth
- Polyhydramnios
Polyhydramnios
- MedGen UID: 6936
- Concept ID: C0020224
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Thickened nuchal skin fold
Thickened nuchal skin fold
- MedGen UID: 324644
- Concept ID: C1836940
- Finding: Finding
Abnormality of prenatal development or birth
- Bilateral fetal pyelectasis
- Abnormality of the cardiovascular system
- Atrial septal defect
Atrial septal defect
- MedGen UID: 6753
- Concept ID: C0018817
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Cardiac arrest
Cardiac arrest
- MedGen UID: 5456
- Concept ID: C0018790
- Finding: Finding
Abnormality of the cardiovascular system
- Left ventricular hypertrophy
Left ventricular hypertrophy
- MedGen UID: 57442
- Concept ID: C0149721
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Patent ductus arteriosus
Patent ductus arteriosus
- MedGen UID: 4415
- Concept ID: C0013274
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Right ventricular hypertrophy
Right ventricular hypertrophy
- MedGen UID: 57981
- Concept ID: C0162770
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Ventricular arrhythmia
Ventricular arrhythmia
- MedGen UID: 39082
- Concept ID: C0085612
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Atrial septal defect
- Abnormality of the digestive system
- Abdominal distention
Abdominal distention
- MedGen UID: 34
- Concept ID: C0000731
- Finding: Finding
Abnormality of the digestive system
- Abnormal hepatic iron concentration
Abnormal hepatic iron concentration
- MedGen UID: 868029
- Concept ID: C4022420
- Finding: Finding
Abnormality of the digestive system
- Ascites
Ascites
- MedGen UID: 416
- Concept ID: C0003962
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Cirrhosis of liver
Cirrhosis of liver
- MedGen UID: 7368
- Concept ID: C0023890
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Elevated hepatic iron concentration
Elevated hepatic iron concentration
- MedGen UID: 868497
- Concept ID: C4022891
- Finding: Finding
Abnormality of the digestive system
- Hepatic steatosis
Hepatic steatosis
- MedGen UID: 398225
- Concept ID: C2711227
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Hepatosplenomegaly
Hepatosplenomegaly
- MedGen UID: 9225
- Concept ID: C0019214
- Finding: Sign or Symptom
Abnormality of the digestive system
- Liver failure
Liver failure
- MedGen UID: 88444
- Concept ID: C0085605
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Micronodular cirrhosis
Micronodular cirrhosis
- MedGen UID: 75640
- Concept ID: C0267812
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Microvesicular hepatic steatosis
Microvesicular hepatic steatosis
- MedGen UID: 376784
- Concept ID: C1850415
- Finding: Finding
Abnormality of the digestive system
- Starry sky appearance on hepatic sonography
Starry sky appearance on hepatic sonography
- MedGen UID: 1372070
- Concept ID: C4477004
- Finding: Finding
Abnormality of the digestive system
- Abdominal distention
- Abnormality of the eye
- Abnormal macular morphology
Abnormal macular morphology
- MedGen UID: 1624166
- Concept ID: C4520679
- Finding: Anatomical Abnormality
Abnormality of the eye
- Abnormal visual fixation
Abnormal visual fixation
- MedGen UID: 1390282
- Concept ID: C4477094
- Finding: Finding
Abnormality of the eye
- Abnormality of eye movement
Abnormality of eye movement
- MedGen UID: 99227
- Concept ID: C0497202
- Finding: Finding
Abnormality of the eye
- Bilateral ptosis
Bilateral ptosis
- MedGen UID: 356120
- Concept ID: C1865916
- Finding: Disease or Syndrome
Abnormality of the eye
- Cerebral visual impairment
Cerebral visual impairment
- MedGen UID: 890568
- Concept ID: C4048268
- Finding: Pathologic Function
Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Moderately reduced visual acuity
Moderately reduced visual acuity
- MedGen UID: 723196
- Concept ID: C1301510
- Finding: Finding
Abnormality of the eye
- Myopia
Myopia
- MedGen UID: 44558
- Concept ID: C0027092
- Finding: Disease or Syndrome
Abnormality of the eye
- Optic disc pallor
Optic disc pallor
- MedGen UID: 108218
- Concept ID: C0554970
- Finding: Finding
Abnormality of the eye
- Retinal dystrophy
Retinal dystrophy
- MedGen UID: 208903
- Concept ID: C0854723
- Finding: Finding
Abnormality of the eye
- Abnormal macular morphology
- Abnormality of the genitourinary system
- Duplicated collecting system
Duplicated collecting system
- MedGen UID: 346936
- Concept ID: C1858565
- Finding: Anatomical Abnormality
Abnormality of the genitourinary system
- Hydronephrosis
Hydronephrosis
- MedGen UID: 42531
- Concept ID: C0020295
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Micropenis
Micropenis
- MedGen UID: 1633603
- Concept ID: C4551492
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Testicular atrophy
Testicular atrophy
- MedGen UID: 57626
- Concept ID: C0156312
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Vesicoureteral reflux
Vesicoureteral reflux
- MedGen UID: 21852
- Concept ID: C0042580
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Duplicated collecting system
- Abnormality of the immune system
- Acute aspiration pneumonia
Acute aspiration pneumonia
- MedGen UID: 868708
- Concept ID: C4023111
- Finding: Disease or Syndrome
Abnormality of the immune system
- Aspiration pneumonia
Aspiration pneumonia
- MedGen UID: 10814
- Concept ID: C0032290
- Finding: Disease or Syndrome
Abnormality of the immune system
- Pneumonia
Pneumonia
- MedGen UID: 10813
- Concept ID: C0032285
- Finding: Disease or Syndrome
Abnormality of the immune system
- Psoriasiform dermatitis
Psoriasiform dermatitis
- MedGen UID: 75508
- Concept ID: C0262985
- Finding: Disease or Syndrome
Abnormality of the immune system
- Seborrheic dermatitis
Seborrheic dermatitis
- MedGen UID: 19912
- Concept ID: C0036508
- Finding: Disease or Syndrome
Abnormality of the immune system
- Splenomegaly
Splenomegaly
- MedGen UID: 52469
- Concept ID: C0038002
- Finding: Finding
Abnormality of the immune system
- Acute aspiration pneumonia
- Abnormality of the integument
- Abnormality of skin pigmentation
Abnormality of skin pigmentation
- MedGen UID: 224697
- Concept ID: C1260926
- Finding: Finding
Abnormality of the integument
- Frontal upsweep of hair
Frontal upsweep of hair
- MedGen UID: 452910
- Concept ID: C1185616
- Finding: Finding
Abnormality of the integument
- Ichthyosis
Ichthyosis
- MedGen UID: 7002
- Concept ID: C0020757
- Finding: Disease or Syndrome
Abnormality of the integument
- Pallor
Pallor
- MedGen UID: 10547
- Concept ID: C0030232
- Finding: Finding
Abnormality of the integument
- Papule
Papule
- MedGen UID: 507324
- Concept ID: C0332563
- Finding: Finding
Abnormality of the integument
- Small nail
Small nail
- MedGen UID: 537942
- Concept ID: C0263523
- Finding: Finding
Abnormality of the integument
- Abnormality of skin pigmentation
- Abnormality of the musculoskeletal system
- Abnormal joint morphology
Abnormal joint morphology
- MedGen UID: 893053
- Concept ID: C0240083
- Finding: Finding
Abnormality of the musculoskeletal system
- Axial hypotonia
Axial hypotonia
- MedGen UID: 342959
- Concept ID: C1853743
- Finding: Finding
Abnormality of the musculoskeletal system
- Brachycephaly
Brachycephaly
- MedGen UID: 113165
- Concept ID: C0221356
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Camptodactyly
Camptodactyly
- MedGen UID: 195780
- Concept ID: C0685409
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Elbow flexion contracture
Elbow flexion contracture
- MedGen UID: 98367
- Concept ID: C0409338
- Finding: Acquired Abnormality
Abnormality of the musculoskeletal system
- Flat occiput
Flat occiput
- MedGen UID: 332439
- Concept ID: C1837402
- Finding: Finding
Abnormality of the musculoskeletal system
- Flexion contracture
Flexion contracture
- MedGen UID: 83069
- Concept ID: C0333068
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Generalized amyotrophy
Generalized amyotrophy
- MedGen UID: 234650
- Concept ID: C1389113
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Hip contracture
Hip contracture
- MedGen UID: 140815
- Concept ID: C0409354
- Finding: Acquired Abnormality
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Increased head circumference
Increased head circumference
- MedGen UID: 909477
- Concept ID: C4083076
- Finding: Finding
Abnormality of the musculoskeletal system
- Large fontanelles
Large fontanelles
- MedGen UID: 105329
- Concept ID: C0456132
- Finding: Finding
Abnormality of the musculoskeletal system
- Limb joint contracture
Limb joint contracture
- MedGen UID: 369611
- Concept ID: C1969879
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Macrocephaly
Macrocephaly
- MedGen UID: 745757
- Concept ID: C2243051
- Finding: Finding
Abnormality of the musculoskeletal system
- Malar flattening
Malar flattening
- MedGen UID: 347616
- Concept ID: C1858085
- Finding: Finding
Abnormality of the musculoskeletal system
- Metopic synostosis
Metopic synostosis
- MedGen UID: 395990
- Concept ID: C1860819
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Muscular atrophy
Muscular atrophy
- MedGen UID: 892680
- Concept ID: C0541794
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Plagiocephaly
Plagiocephaly
- MedGen UID: 78562
- Concept ID: C0265529
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Poor head control
Poor head control
- MedGen UID: 322809
- Concept ID: C1836038
- Finding: Finding
Abnormality of the musculoskeletal system
- Prominent occiput
Prominent occiput
- MedGen UID: 381255
- Concept ID: C1853737
- Finding: Finding
Abnormality of the musculoskeletal system
- Rigidity
Rigidity
- MedGen UID: 7752
- Concept ID: C0026837
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Secondary microcephaly
Secondary microcephaly
- MedGen UID: 608952
- Concept ID: C0431352
- Finding: Finding
Abnormality of the musculoskeletal system
- Thin bony cortex
Thin bony cortex
- MedGen UID: 318844
- Concept ID: C1833325
- Finding: Finding
Abnormality of the musculoskeletal system
- Thoracic hypoplasia
Thoracic hypoplasia
- MedGen UID: 373339
- Concept ID: C1837482
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Abnormal joint morphology
- Abnormality of the nervous system
- Abnormal cerebral white matter morphology
Abnormal cerebral white matter morphology
- MedGen UID: 181756
- Concept ID: C0948163
- Finding: Pathologic Function
Abnormality of the nervous system
- Abnormal pons morphology
Abnormal pons morphology
- MedGen UID: 870459
- Concept ID: C4024905
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Absent septum pellucidum
Absent septum pellucidum
- MedGen UID: 96561
- Concept ID: C0431371
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Absent speech
Absent speech
- MedGen UID: 340737
- Concept ID: C1854882
- Finding: Finding
Abnormality of the nervous system
- Aplasia/Hypoplasia of the cerebral white matter
Aplasia/Hypoplasia of the cerebral white matter
- MedGen UID: 867467
- Concept ID: C4021844
- Finding: Finding
Abnormality of the nervous system
- Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum
- MedGen UID: 354608
- Concept ID: C1861866
- Finding: Finding
Abnormality of the nervous system
- Arrhinencephaly
Arrhinencephaly
- MedGen UID: 36258
- Concept ID: C0078982
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Autism
Autism
- MedGen UID: 13966
- Concept ID: C0004352
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Babinski sign
Babinski sign
- MedGen UID: 19708
- Concept ID: C0034935
- Finding: Finding
Abnormality of the nervous system
- Bilateral tonic-clonic seizure
Bilateral tonic-clonic seizure
- MedGen UID: 141670
- Concept ID: C0494475
- Finding: Sign or Symptom
Abnormality of the nervous system
- Brisk reflexes
Brisk reflexes
- MedGen UID: 382164
- Concept ID: C2673700
- Finding: Finding
Abnormality of the nervous system
- CNS hypomyelination
CNS hypomyelination
- MedGen UID: 892446
- Concept ID: C4025616
- Finding: Finding
Abnormality of the nervous system
- Cerebellar atrophy
Cerebellar atrophy
- MedGen UID: 196624
- Concept ID: C0740279
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebellar hypoplasia
Cerebellar hypoplasia
- MedGen UID: 120578
- Concept ID: C0266470
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Cerebral atrophy
Cerebral atrophy
- MedGen UID: 116012
- Concept ID: C0235946
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebral cortical atrophy
Cerebral cortical atrophy
- MedGen UID: 1646740
- Concept ID: C4551583
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebral white matter hypoplasia
Cerebral white matter hypoplasia
- MedGen UID: 892337
- Concept ID: C4022908
- Finding: Finding
Abnormality of the nervous system
- Delayed myelination
Delayed myelination
- MedGen UID: 224820
- Concept ID: C1277241
- Finding: Finding
Abnormality of the nervous system
- Developmental regression
Developmental regression
- MedGen UID: 324613
- Concept ID: C1836830
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Diffuse leukoencephalopathy
Diffuse leukoencephalopathy
- MedGen UID: 358229
- Concept ID: C1868514
- Finding: Finding
Abnormality of the nervous system
- Dystonic disorder
Dystonic disorder
- MedGen UID: 3940
- Concept ID: C0013421
- Finding: Sign or Symptom
Abnormality of the nervous system
- EEG with burst suppression
EEG with burst suppression
- MedGen UID: 369943
- Concept ID: C1969156
- Finding: Finding
Abnormality of the nervous system
- EEG with generalized polyspikes
EEG with generalized polyspikes
- MedGen UID: 868685
- Concept ID: C4023088
- Finding: Finding
Abnormality of the nervous system
- Encephalopathy
Encephalopathy
- MedGen UID: 39314
- Concept ID: C0085584
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Epileptic encephalopathy
Epileptic encephalopathy
- MedGen UID: 452596
- Concept ID: C0543888
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Exaggerated startle response
Exaggerated startle response
- MedGen UID: 329357
- Concept ID: C1740801
- Finding: Finding
Abnormality of the nervous system
- Febrile seizure (within the age range of 3 months to 6 years)
Febrile seizure (within the age range of 3 months to 6 years)
- MedGen UID: 3232
- Concept ID: C0009952
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Focal clonic seizure
Focal clonic seizure
- MedGen UID: 155749
- Concept ID: C0752323
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Focal seizure with eyelid myoclonia
Focal seizure with eyelid myoclonia
- MedGen UID: 1641164
- Concept ID: C4551850
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Generalized myoclonic seizure
Generalized myoclonic seizure
- MedGen UID: 892704
- Concept ID: C4021759
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Generalized tonic seizure
Generalized tonic seizure
- MedGen UID: 322935
- Concept ID: C1836508
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Generalized-onset seizure
Generalized-onset seizure
- MedGen UID: 115963
- Concept ID: C0234533
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Gliosis
Gliosis
- MedGen UID: 4899
- Concept ID: C0017639
- Finding: Pathologic Function
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Grasp reflex
Grasp reflex
- MedGen UID: 115944
- Concept ID: C0234175
- Finding: Organism Function
Abnormality of the nervous system
- Head titubation
Head titubation
- MedGen UID: 299071
- Concept ID: C1608410
- Finding: Sign or Symptom
Abnormality of the nervous system
- Hyperreflexia
Hyperreflexia
- MedGen UID: 57738
- Concept ID: C0151889
- Finding: Finding
Abnormality of the nervous system
- Hypoplasia of the corpus callosum
Hypoplasia of the corpus callosum
- MedGen UID: 138005
- Concept ID: C0344482
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Hypsarrhythmia
Hypsarrhythmia
- MedGen UID: 195766
- Concept ID: C0684276
- Finding: Finding
Abnormality of the nervous system
- Inability to walk
Inability to walk
- MedGen UID: 107860
- Concept ID: C0560046
- Finding: Finding
Abnormality of the nervous system
- Infantile spasms
Infantile spasms
- MedGen UID: 854616
- Concept ID: C3887898
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Intellectual disability, moderate
Intellectual disability, moderate
- MedGen UID: 7680
- Concept ID: C0026351
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Intellectual disability, profound
Intellectual disability, profound
- MedGen UID: 892508
- Concept ID: C3161330
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Lateral ventricle dilatation
Lateral ventricle dilatation
- MedGen UID: 383904
- Concept ID: C1856409
- Finding: Pathologic Function
Abnormality of the nervous system
- Lower limb spasticity
Lower limb spasticity
- MedGen UID: 220865
- Concept ID: C1271100
- Finding: Finding
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Myoclonus
Myoclonus
- MedGen UID: 10234
- Concept ID: C0027066
- Finding: Finding
Abnormality of the nervous system
- Neuronal loss in central nervous system
Neuronal loss in central nervous system
- MedGen UID: 342515
- Concept ID: C1850496
- Finding: Finding
Abnormality of the nervous system
- Neuronal loss in the cerebral cortex
Neuronal loss in the cerebral cortex
- MedGen UID: 340336
- Concept ID: C1849485
- Finding: Finding
Abnormality of the nervous system
- Olfactory lobe agenesis
Olfactory lobe agenesis
- MedGen UID: 344477
- Concept ID: C1855331
- Finding: Finding
Abnormality of the nervous system
- Opisthotonus
Opisthotonus
- MedGen UID: 56246
- Concept ID: C0151818
- Finding: Sign or Symptom
Abnormality of the nervous system
- Postural tremor
Postural tremor
- MedGen UID: 66696
- Concept ID: C0234378
- Finding: Sign or Symptom
Abnormality of the nervous system
- Profound global developmental delay
Profound global developmental delay
- MedGen UID: 766364
- Concept ID: C3553450
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Reduced eye contact
Reduced eye contact
- MedGen UID: 303190
- Concept ID: C1445953
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Spastic tetraplegia
Spastic tetraplegia
- MedGen UID: 98433
- Concept ID: C0426970
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Spasticity
Spasticity
- MedGen UID: 7753
- Concept ID: C0026838
- Finding: Sign or Symptom
Abnormality of the nervous system
- Status epilepticus
Status epilepticus
- MedGen UID: 11586
- Concept ID: C0038220
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Tetraplegia
Tetraplegia
- MedGen UID: 19617
- Concept ID: C0034372
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Truncal ataxia
Truncal ataxia
- MedGen UID: 96535
- Concept ID: C0427190
- Finding: Sign or Symptom
Abnormality of the nervous system
- Upper limb spasticity
Upper limb spasticity
- MedGen UID: 220882
- Concept ID: C1273957
- Finding: Finding
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- Widened subarachnoid space
Widened subarachnoid space
- MedGen UID: 375826
- Concept ID: C1846151
- Finding: Finding
Abnormality of the nervous system
- Abnormal cerebral white matter morphology
- Abnormality of the respiratory system
- Apnea
Apnea
- MedGen UID: 2009
- Concept ID: C0003578
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Aspiration
Aspiration
- MedGen UID: 751786
- Concept ID: C2712334
- Finding: Finding
Abnormality of the respiratory system
- Respiratory failure
Respiratory failure
- MedGen UID: 257837
- Concept ID: C1145670
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Respiratory tract infection
Respiratory tract infection
- MedGen UID: 11199
- Concept ID: C0035243
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Apnea
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Overfolded helix
Overfolded helix
- MedGen UID: 325239
- Concept ID: C1837731
- Finding: Finding
Ear malformation
- Uplifted earlobe
Uplifted earlobe
- MedGen UID: 344655
- Concept ID: C1856117
- Finding: Anatomical Abnormality
Ear malformation
- Hearing impairment
- Growth abnormality
- Birth length greater than 97th percentile
Birth length greater than 97th percentile
- MedGen UID: 326443
- Concept ID: C1839271
- Finding: Finding
Growth abnormality
- Large for gestational age
Large for gestational age
- MedGen UID: 341215
- Concept ID: C1848395
- Finding: Finding
Growth abnormality
- Overgrowth
Overgrowth
- MedGen UID: 376550
- Concept ID: C1849265
- Finding: Finding
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Birth length greater than 97th percentile
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