Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies
- Synonyms
- SIMHA syndrome
Summary
Available tests
Clinical tests (1 available)
Molecular Genetics Tests
Clinical features
Help- 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
- Midface retrusion
Midface retrusion
- MedGen UID: 339938
- Concept ID: C1853242
- Finding: Anatomical Abnormality
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
- Downturned corners of mouth
- Abnormality of limbs
- Hip subluxation
Hip subluxation
- MedGen UID: 140946
- Concept ID: C0434785
- Finding: Injury or Poisoning
Abnormality of limbs
- Overlapping toe
Overlapping toe
- MedGen UID: 182531
- Concept ID: C0920299
- Finding: Anatomical Abnormality
Abnormality of limbs
- Short fourth metatarsal
Short fourth metatarsal
- MedGen UID: 336358
- Concept ID: C1848514
- Finding: Finding
Abnormality of limbs
- Hip subluxation
- Abnormality of the eye
- Bilateral ptosis
Bilateral ptosis
- MedGen UID: 356120
- Concept ID: C1865916
- Finding: Disease or Syndrome
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Bilateral ptosis
- Abnormality of the integument
- Prominent fingertip pads
Prominent fingertip pads
- MedGen UID: 322758
- Concept ID: C1835807
- Finding: Finding
Abnormality of the integument
- Synophrys
Synophrys
- MedGen UID: 98132
- Concept ID: C0431447
- Finding: Congenital Abnormality
Abnormality of the integument
- Prominent fingertip pads
- Abnormality of the musculoskeletal system
- Bilateral camptodactyly
Bilateral camptodactyly
- MedGen UID: 867453
- Concept ID: C4021830
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Kyphosis
Kyphosis
- MedGen UID: 44042
- Concept ID: C0022821
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Bilateral camptodactyly
- Abnormality of the nervous system
- Delayed ability to stand
Delayed ability to stand
- MedGen UID: 1370611
- Concept ID: C4476709
- Finding: Finding
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
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
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
- Delayed ability to stand
- Ear malformation
- Absent earlobe
Absent earlobe
- MedGen UID: 341440
- Concept ID: C1849364
- Finding: Anatomical Abnormality
Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Protruding ear
Protruding ear
- MedGen UID: 343309
- Concept ID: C1855285
- Finding: Finding
Ear malformation
- Absent earlobe
- Growth abnormality
- Growth delay
Growth delay
- MedGen UID: 99124
- Concept ID: C0456070
- Finding: Pathologic Function
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Growth delay
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