Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
Available tests
Clinical tests (6 available)
Clinical features
Help- Abnormality of head or neck
- Ankyloglossia
Ankyloglossia
- MedGen UID: 56288
- Concept ID: C0152415
- 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
- Bifid uvula
Bifid uvula
- MedGen UID: 1646931
- Concept ID: C4551488
- Finding: Congenital Abnormality
Abnormality of head or neck
- Blepharochalasis
Blepharochalasis
- MedGen UID: 14154
- Concept ID: C0005742
- Finding: Disease or Syndrome
Abnormality of head or neck
- Broad eyebrow
Broad eyebrow
- MedGen UID: 344657
- Concept ID: C1856121
- Finding: Finding
Abnormality of head or neck
- Broad forehead
Broad forehead
- MedGen UID: 338610
- Concept ID: C1849089
- Finding: Finding
Abnormality of head or neck
- Broad nasal tip
Broad nasal tip
- MedGen UID: 98424
- Concept ID: C0426429
- Finding: Finding
Abnormality of head or neck
- Bulbous nose
Bulbous nose
- MedGen UID: 66013
- Concept ID: C0240543
- Finding: Finding
Abnormality of head or neck
- Cleft lip
Cleft lip
- MedGen UID: 1370297
- Concept ID: C4321245
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Cleft palate
Cleft palate
- MedGen UID: 756015
- Concept ID: C2981150
- Finding: Congenital Abnormality
Abnormality of head or neck
- Coarse facial features
Coarse facial features
- MedGen UID: 335284
- Concept ID: C1845847
- Finding: Finding
Abnormality of head or neck
- Depressed nasal ridge
Depressed nasal ridge
- MedGen UID: 334631
- Concept ID: C1842876
- Finding: Finding
Abnormality of head or neck
- Downslanted palpebral fissures
Downslanted palpebral fissures
- MedGen UID: 98391
- Concept ID: C0423110
- 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
- Epicanthus
Epicanthus
- MedGen UID: 151862
- Concept ID: C0678230
- Finding: Congenital Abnormality
Abnormality of head or neck
- Everted lower lip vermilion
Everted lower lip vermilion
- MedGen UID: 344003
- Concept ID: C1853246
- Finding: Finding
Abnormality of head or neck
- Full cheeks
Full cheeks
- MedGen UID: 355661
- Concept ID: C1866231
- Finding: Finding
Abnormality of head or neck
- High forehead
High forehead
- MedGen UID: 65991
- Concept ID: C0239676
- 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
- Highly arched eyebrow
Highly arched eyebrow
- MedGen UID: 358357
- Concept ID: C1868571
- Finding: Finding
Abnormality of head or neck
- Long face
Long face
- MedGen UID: 324419
- Concept ID: C1836047
- Finding: Finding
Abnormality of head or neck
- Long palpebral fissure
Long palpebral fissure
- MedGen UID: 340300
- Concept ID: C1849340
- Finding: Finding
Abnormality of head or neck
- Long philtrum
Long philtrum
- MedGen UID: 351278
- Concept ID: C1865014
- Finding: Finding
Abnormality of head or neck
- Mandibular prognathia
Mandibular prognathia
- MedGen UID: 98316
- Concept ID: C0399526
- Finding: Finding
Abnormality of head or neck
- Narrow mouth
Narrow mouth
- MedGen UID: 44435
- Concept ID: C0026034
- Finding: Congenital Abnormality
Abnormality of head or neck
- Narrow palpebral fissure
Narrow palpebral fissure
- MedGen UID: 382506
- Concept ID: C2675021
- Finding: Finding
Abnormality of head or neck
- Periorbital fullness
Periorbital fullness
- MedGen UID: 1710990
- Concept ID: C4760994
- Finding: Finding
Abnormality of head or neck
- Pointed chin
Pointed chin
- MedGen UID: 336193
- Concept ID: C1844505
- Finding: Finding
Abnormality of head or neck
- Prominent nasal bridge
Prominent nasal bridge
- MedGen UID: 343051
- Concept ID: C1854113
- Finding: Finding
Abnormality of head or neck
- Prominent nose
Prominent nose
- MedGen UID: 98423
- Concept ID: C0426415
- Finding: Finding
Abnormality of head or neck
- Short nose
Short nose
- MedGen UID: 343052
- Concept ID: C1854114
- Finding: Finding
Abnormality of head or neck
- Short philtrum
Short philtrum
- MedGen UID: 350006
- Concept ID: C1861324
- Finding: Finding
Abnormality of head or neck
- Short uvula
Short uvula
- MedGen UID: 853263
- Concept ID: C1401781
- Finding: Finding
Abnormality of head or neck
- Smooth philtrum
Smooth philtrum
- MedGen UID: 222980
- Concept ID: C1142533
- Finding: Finding
Abnormality of head or neck
- Sparse eyebrow
Sparse eyebrow
- MedGen UID: 371332
- Concept ID: C1832446
- Finding: Finding
Abnormality of head or neck
- Tented upper lip vermilion
Tented upper lip vermilion
- MedGen UID: 326574
- Concept ID: C1839767
- Finding: Finding
Abnormality of head or neck
- Thick lower lip vermilion
Thick lower lip vermilion
- MedGen UID: 326567
- Concept ID: C1839739
- Finding: Finding
Abnormality of head or neck
- Thick vermilion border
Thick vermilion border
- MedGen UID: 332232
- Concept ID: C1836543
- Finding: Finding
Abnormality of head or neck
- Thin upper lip vermilion
Thin upper lip vermilion
- MedGen UID: 355352
- Concept ID: C1865017
- Finding: Finding
Abnormality of head or neck
- Triangular face
Triangular face
- MedGen UID: 324383
- Concept ID: C1835884
- Finding: Finding
Abnormality of head or neck
- Wide mouth
Wide mouth
- MedGen UID: 44238
- Concept ID: C0024433
- Finding: Congenital Abnormality
Abnormality of head or neck
- Wide nasal bridge
Wide nasal bridge
- MedGen UID: 341441
- Concept ID: C1849367
- Finding: Finding
Abnormality of head or neck
- Ankyloglossia
- Abnormality of limbs
- Arachnodactyly
Arachnodactyly
- MedGen UID: 2047
- Concept ID: C0003706
- Finding: Congenital Abnormality
Abnormality of limbs
- Broad distal phalanx of finger
Broad distal phalanx of finger
- MedGen UID: 342551
- Concept ID: C1850630
- Finding: Finding
Abnormality of limbs
- Broad finger
Broad finger
- MedGen UID: 375540
- Concept ID: C1844906
- Finding: Finding
Abnormality of limbs
- Broad foot
Broad foot
- MedGen UID: 356187
- Concept ID: C1866241
- Finding: Finding
Abnormality of limbs
- Clinodactyly
Clinodactyly
- MedGen UID: 1644094
- Concept ID: C4551485
- Finding: Congenital Abnormality
Abnormality of limbs
- Cubitus valgus
Cubitus valgus
- MedGen UID: 490152
- Concept ID: C0158465
- Finding: Acquired Abnormality
Abnormality of limbs
- Pes planus
Pes planus
- MedGen UID: 42034
- Concept ID: C0016202
- Finding: Anatomical Abnormality
Abnormality of limbs
- Sandal gap
Sandal gap
- MedGen UID: 374376
- Concept ID: C1840069
- Finding: Finding
Abnormality of limbs
- Short foot
Short foot
- MedGen UID: 376415
- Concept ID: C1848673
- Finding: Finding
Abnormality of limbs
- Short palm
Short palm
- MedGen UID: 334684
- Concept ID: C1843108
- Finding: Finding
Abnormality of limbs
- Single transverse palmar crease
Single transverse palmar crease
- MedGen UID: 96108
- Concept ID: C0424731
- Finding: Finding
Abnormality of limbs
- Small hand
Small hand
- MedGen UID: 108279
- Concept ID: C0575802
- Finding: Finding
Abnormality of limbs
- Tapered finger
Tapered finger
- MedGen UID: 98098
- Concept ID: C0426886
- Finding: Finding
Abnormality of limbs
- Toe syndactyly
Toe syndactyly
- MedGen UID: 75581
- Concept ID: C0265660
- Finding: Congenital Abnormality
Abnormality of limbs
- Arachnodactyly
- Abnormality of the cardiovascular system
- Aortic aneurysm
Aortic aneurysm
- MedGen UID: 362
- Concept ID: C0003486
- Finding: Disease or Syndrome
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
- Aortic aneurysm
- Abnormality of the digestive system
- Constipation
Constipation
- MedGen UID: 1101
- Concept ID: C0009806
- Finding: Sign or Symptom
Abnormality of the digestive system
- Gastroesophageal reflux
Gastroesophageal reflux
- MedGen UID: 1368658
- Concept ID: C4317146
- Finding: Finding
Abnormality of the digestive system
- Tube feeding
Tube feeding
- MedGen UID: 8641
- Concept ID: C0014327
- Finding: Therapeutic or Preventive Procedure
Abnormality of the digestive system
- Vomiting
Vomiting
- MedGen UID: 12124
- Concept ID: C0042963
- Finding: Sign or Symptom
Abnormality of the digestive system
- Constipation
- Abnormality of the eye
- Abnormally large globe
Abnormally large globe
- MedGen UID: 344595
- Concept ID: C1855852
- Finding: Finding
Abnormality of the eye
- Deeply set eye
Deeply set eye
- MedGen UID: 473112
- Concept ID: C0423224
- Finding: Finding
Abnormality of the eye
- Duane retraction syndrome
Duane retraction syndrome
- MedGen UID: 4413
- Concept ID: C0013261
- Finding: Disease or Syndrome
Abnormality of the eye
- Esodeviation
Esodeviation
- MedGen UID: 1641033
- Concept ID: C4551734
- Finding: Disease or Syndrome
Abnormality of the eye
- High myopia
High myopia
- MedGen UID: 78759
- Concept ID: C0271183
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypermetropia
Hypermetropia
- MedGen UID: 43780
- Concept ID: C0020490
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Proptosis
Proptosis
- MedGen UID: 41917
- Concept ID: C0015300
- Finding: Disease or Syndrome
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Abnormally large globe
- Abnormality of the genitourinary system
- Cryptorchidism
Cryptorchidism
- MedGen UID: 8192
- Concept ID: C0010417
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Primary amenorrhea
Primary amenorrhea
- MedGen UID: 115918
- Concept ID: C0232939
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Cryptorchidism
- Abnormality of the immune system
- Asthma
Asthma
- MedGen UID: 2109
- Concept ID: C0004096
- Finding: Disease or Syndrome
Abnormality of the immune system
- Recurrent infections
Recurrent infections
- MedGen UID: 65998
- Concept ID: C0239998
- Finding: Finding
Abnormality of the immune system
- Recurrent otitis media
Recurrent otitis media
- MedGen UID: 155436
- Concept ID: C0747085
- Finding: Disease or Syndrome
Abnormality of the immune system
- Asthma
- Abnormality of the integument
- Deep plantar creases
Deep plantar creases
- MedGen UID: 341890
- Concept ID: C1857953
- 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
- Hirsutism
Hirsutism
- MedGen UID: 42461
- Concept ID: C0019572
- Finding: Disease or Syndrome
Abnormality of the integument
- Hyperhidrosis
Hyperhidrosis
- MedGen UID: 5690
- Concept ID: C0020458
- Finding: Finding
Abnormality of the integument
- Long eyelashes
Long eyelashes
- MedGen UID: 342955
- Concept ID: C1853738
- Finding: Finding
Abnormality of the integument
- Preauricular pit
Preauricular pit
- MedGen UID: 120587
- Concept ID: C0266610
- Finding: Congenital Abnormality
Abnormality of the integument
- Striae distensae
Striae distensae
- MedGen UID: 57541
- Concept ID: C0152459
- Finding: Acquired Abnormality
Abnormality of the integument
- Deep plantar creases
- Abnormality of the musculoskeletal system
- Bilateral camptodactyly
Bilateral camptodactyly
- MedGen UID: 867453
- Concept ID: C4021830
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Brachycephaly
Brachycephaly
- MedGen UID: 113165
- Concept ID: C0221356
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Delayed skeletal maturation
Delayed skeletal maturation
- MedGen UID: 108148
- Concept ID: C0541764
- Finding: Finding
Abnormality of the musculoskeletal system
- Frontal bossing
Frontal bossing
- MedGen UID: 67453
- Concept ID: C0221354
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Joint hypermobility
Joint hypermobility
- MedGen UID: 336793
- Concept ID: C1844820
- Finding: Finding
Abnormality of the musculoskeletal system
- Macrocephaly
Macrocephaly
- MedGen UID: 745757
- Concept ID: C2243051
- 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
- Osteopenia
Osteopenia
- MedGen UID: 18222
- Concept ID: C0029453
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Pectus excavatum of inferior sternum
Pectus excavatum of inferior sternum
- MedGen UID: 400614
- Concept ID: C1864796
- Finding: Finding
Abnormality of the musculoskeletal system
- Plagiocephaly
Plagiocephaly
- MedGen UID: 78562
- Concept ID: C0265529
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Retrognathia
Retrognathia
- MedGen UID: 19766
- Concept ID: C0035353
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Sagittal craniosynostosis
Sagittal craniosynostosis
- MedGen UID: 140921
- Concept ID: C0432123
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Slender long bone
Slender long bone
- MedGen UID: 331446
- Concept ID: C1833144
- Finding: Finding
Abnormality of the musculoskeletal system
- Bilateral camptodactyly
- Abnormality of the nervous system
- Autistic behavior
Autistic behavior
- MedGen UID: 163547
- Concept ID: C0856975
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Delayed ability to walk
Delayed ability to walk
- MedGen UID: 66034
- Concept ID: C0241726
- Finding: Finding
Abnormality of the nervous system
- Delayed speech and language development
Delayed speech and language development
- MedGen UID: 105318
- Concept ID: C0454644
- 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
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Hyperactivity
Hyperactivity
- MedGen UID: 98406
- Concept ID: C0424295
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Short attention span
Short attention span
- MedGen UID: 82652
- Concept ID: C0262630
- Finding: Finding
Abnormality of the nervous system
- Sleep abnormality
Sleep abnormality
- MedGen UID: 52372
- Concept ID: C0037317
- Finding: Finding
Abnormality of the nervous system
- Sleep onset insomnia
Sleep onset insomnia
- MedGen UID: 98288
- Concept ID: C0393760
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Syringomyelia
Syringomyelia
- MedGen UID: 21449
- Concept ID: C0039144
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Autistic behavior
- Abnormality of the respiratory system
- Pneumothorax
Pneumothorax
- MedGen UID: 19365
- Concept ID: C0032326
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Recurrent respiratory infections
Recurrent respiratory infections
- MedGen UID: 812812
- Concept ID: C3806482
- Finding: Finding
Abnormality of the respiratory system
- Pneumothorax
- Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Macrotia
Macrotia
- MedGen UID: 488785
- Concept ID: C0152421
- Finding: Congenital Abnormality
Ear malformation
- Microtia
Microtia
- MedGen UID: 57535
- Concept ID: C0152423
- Finding: Congenital Abnormality
Ear malformation
- Posteriorly rotated ears
Posteriorly rotated ears
- MedGen UID: 96566
- Concept ID: C0431478
- Finding: Congenital Abnormality
Ear malformation
- Prominent tragus
Prominent tragus
- MedGen UID: 866817
- Concept ID: C4021171
- Finding: Finding
Ear malformation
- Protruding ear
Protruding ear
- MedGen UID: 343309
- Concept ID: C1855285
- Finding: Finding
Ear malformation
- Low-set ears
- Growth abnormality
- Obesity
Obesity
- MedGen UID: 18127
- Concept ID: C0028754
- Finding: Disease or Syndrome
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Tall stature
Tall stature
- MedGen UID: 69137
- Concept ID: C0241240
- Finding: Finding
Growth abnormality
- Obesity
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