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| Disorders | Cases | Main clinical/imaging features |
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| Cortical dysplasia | 1 | Motor developmental retardation and microcephaly. Severe cortex dysplasia in parietal lobe and frontal, temporal and occipital lobes, respectively, on cranial MRI scanning. |
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| Tuberous sclerosis | 1 | Intelligence and motor retardation, seizures, cutaneous hypomelanotic macules, fondus ocili depigmentation, and subependymal nodules and calcified lesions in the cortex of parietal and temporal lobes on cranial CT scanning |
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| Miller-Dieker syndrome | 2 | Intelligence and motor retardation, microcephaly, prominent occiput, narrow forehead, small nose and chin. Seizure in 1 case and hypertonia in another one. Agyria/pachygyria cortical malformations on MRI. |
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| Muscle-Eye-Brain disease | 2 | Sibling sisters with global developmental delay. Abnormal pupils and vitreous bodies in both cases on ophthalmologic examination. Convulsions in 1 case and small right eyeball in another. Both have increased creatine kinase levels and cobblestone cortical malformations on MRI. |
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| Isolated lissencephaly sequence | 1 | Intelligence and motor retardation, and bilateral thickened and irregular cortex on MRI |
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| Lissencephaly with cerebellar hypoplasia | 1 | Mental/language retardation, drooling, and bilateral pachygyria malformation and hypoplasia of cerebellum revealed by MRI. |
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| Other malformations of cortical development | 6 | All have intelligence and motor retardation. Including 2 cases of cobblestone cortical malformations and 1 classic lissencephaly revealed by CT/MRI. |
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| Dandy-Walker syndrome | 1 | Intelligence and motor retardation with low-set and everted ears, and hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle on MRI. |
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| Spinocerebellar ataxia | 1 | Intelligence and motor retrogression, and severe cerebellar and pons atrophy together with tiger-eye-like sign at the basal ganglia level and cross-sign at pons level, respectively, on MRI. |
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| Neurofibromatosis type I | 1 | Intelligence and motor retardation, and 7 cutaneous cafe-au-lait patches with diameter over 10 mm |
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| Silver-Russell syndrome | 2 | Both have dysmorphic facial features including triangular face, low-set ears, flat nasal bridge with extroversion of nostrils and down-curving mouth corners. Normal head circumference. Asymmetry of the lower extremities. Postnatal failure to thrive. Intrauterine retardation in 1 case and linea alba hernia in another. |
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| Noonan syndrome | 1 | Short stature, short neck with redundancy of skin, hypertelorism, downward eyeslant, low-set ears, cryptorchidism, and poor sucking. Atrial septal defect and right pulmonic stenosis on ultrasonography. |
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| Poland–Moebius syndrome | 1 | Signs of facial palsy, disappeared corneal reflex, and poor sucking and swallowing. Micrognathia and high-arched palate. Small left hand, ipsilateral brachydactyly and hypoplasia of the nails and pectoralis major muscle. |
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| Crisponi syndrome | 1 | Convulsions in response to stimuli like crying and bathing. Camptodactyly in hands. Round face, broad nose with anteverted nostrils, and micrognathia. Major sucking difficulty and frequent apnea. Hyperthermia that led to death. |
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