Global developmental delay, and Small for gestational age

Diseases related with Global developmental delay and Small for gestational age

In the following list you will find some of the most common rare diseases related to Global developmental delay and Small for gestational age that can help you solving undiagnosed cases.


Top matches:

High match PANCREATIC AGENESIS 2; PAGEN2


PANCREATIC AGENESIS 2; PAGEN2 Is also known as pancreatic hypoplasia, congenital 2

Related symptoms:

  • Global developmental delay
  • Diabetes mellitus
  • Small for gestational age
  • Hepatic failure
  • Type I diabetes mellitus


SOURCES: OMIM MENDELIAN

More info about PANCREATIC AGENESIS 2; PAGEN2

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60; MRT60


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60; MRT60

High match NEONATAL INTRAHEPATIC CHOLESTASIS DUE TO CITRIN DEFICIENCY


Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.

NEONATAL INTRAHEPATIC CHOLESTASIS DUE TO CITRIN DEFICIENCY Is also known as cholestasis, neonatal intrahepatic, caused by citrin deficiency|neonatal intrahepatic cholestasis caused by citrin deficiency|citrullinemia, type ii, neonatal-onset, with or without failure to thrive and dyslipidemia|niccd

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEONATAL INTRAHEPATIC CHOLESTASIS DUE TO CITRIN DEFICIENCY

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Other less relevant matches:

High match SIX2-RELATED FRONTONASAL DYSPLASIA


SIX2-RELATED FRONTONASAL DYSPLASIA Is also known as six2-related fnd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about SIX2-RELATED FRONTONASAL DYSPLASIA

High match FAMILIAL HYPERTHYROIDISM DUE TO MUTATIONS IN TSH RECEPTOR


Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.

FAMILIAL HYPERTHYROIDISM DUE TO MUTATIONS IN TSH RECEPTOR Is also known as hyperthyroidism, nonautoimmune, autosomal dominant|toxic thyroid hyperplasia, autosomal dominant|familial non-immune hyperthyroidism|resistance to thyroid stimulating hormone|hyperthyroidism, congenital nonautoimmune

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Delayed speech and language development
  • Motor delay
  • Diarrhea


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FAMILIAL HYPERTHYROIDISM DUE TO MUTATIONS IN TSH RECEPTOR

High match HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A


Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) comprises a genetically heterogeneous group of progressive neurologic disorders caused by autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. BH4 is a cofactor for phenylalanine hydroxylase (PAH ), tyrosine hydroxylase (TH ) and tryptophan hydroxylase (TPH1 ), the latter 2 of which are involved in neurotransmitter synthesis. The BH4-deficient HPAs are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits (Dudesek et al., 2001).HPABH4A, caused by mutations in the PTS gene, represents the most common cause of BH4-deficient hyperphenylalaninemia (Dudesek et al., 2001). Other forms of BH4-deficient HPA include HPABH4B (OMIM ), caused by mutation in the GCH1 gene (OMIM ), HPABH4C (OMIM ), caused by mutation in the QDPR gene (OMIM ), and HPABH4D (OMIM ), caused by mutation in the PCBD1 gene (OMIM ). Niederwieser et al. (1982) noted that about 1 to 3% of patients with hyperphenylalaninemia have one of these BH4-deficient forms. These disorders are clinically and genetically distinct from classic phenylketonuria (PKU ), caused by mutation in the PAH gene.Two additional disorders associated with BH4 deficiency and neurologic symptoms do not have overt hyperphenylalaninemia as a feature: dopa-responsive dystonia (OMIM ), caused by mutation in the SPR gene (OMIM ), and autosomal dominant dopa-responsive dystonia (DYT5 ), caused by mutation in the GCH1 gene. Patients with these disorders may develop hyperphenylalaninemia when stressed.

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A Is also known as hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pts deficiency|6-pyruvoyl-tetrahydropterin synthase deficiency|pts deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A

High match MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY


Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.

MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY Is also known as microcephalic primordial dwarfism, walsh type

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cataract
  • Spasticity
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY

High match TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE; TTD6


Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Nystagmus
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE; TTD6

High match XQ27.3Q28 DUPLICATION SYNDROME


Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

XQ27.3Q28 DUPLICATION SYNDROME Is also known as trisomy xq27.3q28|dup(x)(q27.3q28)|xq27.3-q28 microduplication syndrome|trisomy xq27.3-q28

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about XQ27.3Q28 DUPLICATION SYNDROME

High match PRIMARY IMMUNODEFICIENCY WITH NATURAL-KILLER CELL DEFICIENCY AND ADRENAL INSUFFICIENCY


The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21.

PRIMARY IMMUNODEFICIENCY WITH NATURAL-KILLER CELL DEFICIENCY AND ADRENAL INSUFFICIENCY Is also known as natural killer cell deficiency, familial isolated|natural killer cell and glucocorticoid deficiency with dna repair defect|nkgcd|primary immunodeficiency due to mcm4 deficiency|nkcd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PRIMARY IMMUNODEFICIENCY WITH NATURAL-KILLER CELL DEFICIENCY AND ADRENAL INSUFFICIENCY

Top 5 symptoms//phenotypes associated to Global developmental delay and Small for gestational age

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Intrauterine growth retardation Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Delayed skeletal maturation Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Global developmental delay and Small for gestational age. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Motor delay Intellectual disability Failure to thrive

Rare Symptoms - Less than 30% cases


Hypoglycemia Hepatomegaly Anemia Generalized hypotonia Intellectual disability, mild Delayed myelination Seizures Abnormality of the nervous system Small cerebral cortex Abnormality of the cerebrum Abnormality of the cerebral cortex Profound global developmental delay Cortical gyral simplification Choanal atresia Sloping forehead Pes cavus Abnormal neuron morphology Nystagmus Brain atrophy Intellectual disability, moderate Dry skin Ichthyosis Microcornea Esotropia Bilateral sensorineural hearing impairment Neuronal loss in central nervous system Ventriculomegaly Gliosis Micrognathia Intellectual disability, progressive Poor suck Hypokinesia Episodic fever Excessive daytime somnolence Excessive salivation Hyperphenylalaninemia Transient hyperphenylalaninemia Cataract Abnormal cerebellum morphology Spasticity Flexion contracture Coxa valga Cerebellar atrophy Cerebral atrophy Prominent nasal bridge Severe global developmental delay Arthrogryposis multiplex congenita Broad-based gait Muscular hypotonia Brittle hair Recurrent infections Sparse body hair Increased circulating gonadotropin level Decreased serum testosterone level Abdominal obesity Primary testicular failure Neoplasm Splenomegaly Immunodeficiency Clinodactyly High pitched voice Recurrent respiratory infections Respiratory failure Postnatal growth retardation Lymphadenopathy Adrenal insufficiency Chromosome breakage Recurrent viral infections Lymphoproliferative disorder Truncal obesity Premature ovarian insufficiency Coronal craniosynostosis Hypogonadism Slow-growing hair Long-tract signs Mild intrauterine growth retardation Tiger tail banding Abnormal facial shape Progressive neurologic deterioration Cryptorchidism Obesity Deeply set eye Hypergonadotropic hypogonadism Neonatal hypotonia Thin vermilion border Bulbous nose Small hand Short foot Decreased testicular size Specific learning disability Gynecomastia Choreoathetosis Hypertonia Abnormality of extrapyramidal motor function Hypertelorism Intrahepatic cholestasis Hypoproteinemia Decreased HDL cholesterol concentration Hypergalactosemia Giant cell hepatitis Hypermethioninemia Elevated plasma citrulline Ptosis Prolonged neonatal jaundice Depressed nasal bridge Macrocephaly Frontal bossing Posteriorly rotated ears High forehead Abnormality of the kidney Broad nasal tip Wide anterior fontanel Abnormality of lipid metabolism Hypercholesterolemia Epicanthus inversus Jaundice Hepatic failure Type I diabetes mellitus Steatorrhea Pancreatic hypoplasia Delayed puberty Pachygyria Decreased body weight Mild microcephaly Abnormality of the liver Hyperbilirubinemia Cirrhosis Hemolytic anemia Hepatic steatosis Hepatitis Hypertriglyceridemia Cholestasis Decreased liver function Hepatic fibrosis Abnormality of the thyroid gland Metopic synostosis Bradykinesia Tremor Thyroid hyperplasia Thyrotoxicosis with diffuse goiter Eyelid retraction Activating thyroid-stimulating hormone receptor defect Pretibial myxedema Ataxia Hyperreflexia Gait disturbance Graves disease Dysphagia Diabetes mellitus Dystonia Rigidity Muscular hypotonia of the trunk Irritability Postural instability Parkinsonism Abnormal eye morphology Autoimmune antibody positivity Abnormality of the skull base Weight loss Absent/hypoplastic paranasal sinuses Premature posterior fontanelle closure Prominent palatine ridges Aplasia/Hypoplasia of the frontal sinuses Delayed speech and language development Diarrhea Abnormality of metabolism/homeostasis Hyperactivity Proptosis Hand tremor Tachycardia Sleep disturbance Premature birth Accelerated skeletal maturation Tachypnea Goiter Agitation Hyperthyroidism Stomatitis



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