Hao-Fountain syndrome due to USP7 mutation
Clinical features
Help- Abnormality of head or neck
- Abnormal facial shape
Abnormal facial shape
- MedGen UID: 98409
- Concept ID: C0424503
- Finding: Finding
Abnormality of head or neck
- Abnormal facial shape
- 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
- Hallux valgus
Hallux valgus
- MedGen UID: 5416
- Concept ID: C0018536
- Finding: Anatomical Abnormality
Abnormality of limbs
- Clinodactyly of the 5th finger
- Abnormality of the endocrine system
- Premature adrenarche
Premature adrenarche
- MedGen UID: 137972
- Concept ID: C0342546
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Premature adrenarche
- Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Strabismus
- Abnormality of the genitourinary system
- Cryptorchidism
Cryptorchidism
- MedGen UID: 8192
- Concept ID: C0010417
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Micropenis
Micropenis
- MedGen UID: 1633603
- Concept ID: C4551492
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Cryptorchidism
- Abnormality of the musculoskeletal system
- Delayed cranial suture closure
Delayed cranial suture closure
- MedGen UID: 75805
- Concept ID: C0277828
- Finding: Finding
Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Large fontanelles
Large fontanelles
- MedGen UID: 105329
- Concept ID: C0456132
- Finding: Finding
Abnormality of the musculoskeletal system
- Trigonocephaly
Trigonocephaly
- MedGen UID: 82713
- Concept ID: C0265535
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Delayed cranial suture closure
- Abnormality of the nervous system
- Absent speech
Absent speech
- MedGen UID: 340737
- Concept ID: C1854882
- Finding: Finding
Abnormality of the nervous system
- Aggressive behavior
Aggressive behavior
- MedGen UID: 1375
- Concept ID: C0001807
- Finding: Individual Behavior
Abnormality of the nervous system
- Apnea, central sleep
Apnea, central sleep
- MedGen UID: 99249
- Concept ID: C0520680
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Apraxia
Apraxia
- MedGen UID: 8166
- Concept ID: C0003635
- Finding: Mental or Behavioral Dysfunction
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 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
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Perseverative thought
Perseverative thought
- MedGen UID: 66686
- Concept ID: C0233651
- 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
- Speech apraxia
Speech apraxia
- MedGen UID: 78112
- Concept ID: C0264611
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Absent speech
- Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Low-set ears
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