Intellectual developmental disorder with hypertelorism and distinctive facies
Clinical features
Help- Abnormality of head or neck
- Broad nasal tip
Broad nasal tip
- MedGen UID: 98424
- Concept ID: C0426429
- 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
- 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
- Thick nasal alae
Thick nasal alae
- MedGen UID: 335032
- Concept ID: C1844809
- Finding: Finding
Abnormality of head or neck
- Thin eyebrow
Thin eyebrow
- MedGen UID: 924116
- Concept ID: C4281771
- 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
- Wide nasal bridge
Wide nasal bridge
- MedGen UID: 341441
- Concept ID: C1849367
- Finding: Finding
Abnormality of head or neck
- Broad nasal tip
- Abnormality of limbs
- Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
- MedGen UID: 340456
- Concept ID: C1850049
- Finding: Congenital Abnormality
Abnormality of limbs
- Pes planus
Pes planus
- MedGen UID: 42034
- Concept ID: C0016202
- Finding: Anatomical Abnormality
Abnormality of limbs
- Tapered finger
Tapered finger
- MedGen UID: 98098
- Concept ID: C0426886
- Finding: Finding
Abnormality of limbs
- Clinodactyly of the 5th finger
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Hypertelorism
- Abnormality of the musculoskeletal system
- Macrocephaly
Macrocephaly
- MedGen UID: 745757
- Concept ID: C2243051
- Finding: Finding
Abnormality of the musculoskeletal system
- Narrow jaw
Narrow jaw
- MedGen UID: 866719
- Concept ID: C4021066
- Finding: Finding
Abnormality of the musculoskeletal system
- Macrocephaly
- 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 early-childhood social milestone development
Delayed early-childhood social milestone development
- MedGen UID: 868509
- Concept ID: C4022906
- Finding: Finding
Abnormality of the nervous system
- Delayed fine motor development
Delayed fine motor development
- MedGen UID: 869257
- Concept ID: C4023681
- Finding: Finding
Abnormality of the nervous system
- Delayed gross motor development
Delayed gross motor development
- MedGen UID: 332508
- Concept ID: C1837658
- 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
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
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, severe
Intellectual disability, severe
- MedGen UID: 48638
- Concept ID: C0036857
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Recurrent hand flapping
Recurrent hand flapping
- MedGen UID: 867996
- Concept ID: C4022387
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Autistic behavior
- Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Posteriorly rotated ears
Posteriorly rotated ears
- MedGen UID: 96566
- Concept ID: C0431478
- Finding: Congenital Abnormality
Ear malformation
- Low-set ears
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