creatine transporter deficiency
X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.
MONDO:0000456
cerebral creatine deficiency syndrome
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
CCDS1
related
SLC6A8 deficiency
exact
X-linked creatine deficiency
related
X-linked creatine deficiency syndrome
related
cerebral creatine deficiency syndrome 1
exact
cerebral creatine deficiency syndrome 1, X-linked recessive
exact
cerebral creatine deficiency syndrome type 1
exact
creatine deficiency, X-linked
related
creatine transporter deficiency
exact
intellectual disability, X-linked with seizures, short stature and midface hypoplasia
related
intellectual disability, X-linked, with creatine transport deficiency
related
mental retardation, X-linked with seizures, short stature and midface hypoplasia
related
mental retardation, X-linked, with creatine Transport deficiency
related
mental retardation, X-linked, with creatine transport deficiency
related
mental retardation, X-linked, with seizures, short stature, and midface hypoplasia
related